View all contents - The Globin Gene Server - Leiden Open Variation Database

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The variants below are all in the HBB database. All fields are shown, including patient and pathogenicity information. A '+' in the DNA change field indicates that more variants were found in this patient. Variants reported in a gene database other than HBB, are reported as the gene symbol with the number of reported variants between parenthesis.
Selecting and clicking a specific line will open a detailed view showing all details per patient.
At the bottom of this page a legend is provided with a short explanation of what each field contains.
For a more detailed description of each field, please see the HBB full legend here.

1004 public entries
entries per page

Path.

Exon

DNA change

RNA change

Protein

DB-ID

HbVar link

Frequency

Re-site

Disease

Reference

Template

Technique

Remarks

# Reported

Ethnic origin

Disease Mesh ID

Geographic origin


+?/?	1	HBB:c.-100G>A	-	-	HBB_01666	HbVar	-	-	beta+ thal	dbSNP;Li DZ et al.;	Protein	Amino	-50 G>A	1	-	D013789	-
+?/?	1	HBB:c.-106G>C	-	-	HBB_01373	HbVar	-	-	rare variant	dbSNP;Giordano P (A-9724-2010);	DNA	SEQ	-56 (G>C)	1	-	-	-
+?/?	1	HBB:c.-11_-8delAAAC	-	-	HBB_01096	HbVar	-	-	beta+ thal	dbSNP;Huang SZ et al.;Frances V et al.;	DNA	SEQ	5'UTR; +43 to +40 (-AAAC) beta+	1	-	D013789	-
+?/?	1	HBB:c.-121C>T	-	-	HBB_01660	HbVar	-	-	beta (0 or + unclear) thal	dbSNP;Old J (E-5816-2010);	Protein	Amino	-71 (C>T)	1	-	D013789	-
+?/?	1	HBB:c.-122T>A	-	-	HBB_01926	HbVar	-	-	beta+ thal	PIRASTRU, M. and coll.; HbVar A-2391-2010;	Protein	Amino	-72 (T>A) beta+	1	-	D013789	-
+?/?	1	HBB:c.-126C>A	-	-	HBB_02035	-	-	-	beta+ thal	IVALDI G; HbVar A-2391-2010;	Protein	Amino	beta nt -76 C>A	1	-	-	-
+?/?	1	HBB:c.-126C>A	-	-	HBB_02212	-	-	-	beta+ thal	Ivaldi G; HbVar A-2391-2010;	Protein	Amino	beta nt -76 C>A	1	-	-	-
+?/?	1	HBB:c.-127G>C	-	-	HBB_01982	-	-	-	beta+ thal	Bilgen T et al.;	Protein	Amino	beta nt -77 G>C	1	-	-	-
+?/?	1	HBB:c.-127G>C	-	-	HBB_02190	-	-	-	beta+ thal	Bilgen T et al.;	Protein	Amino	beta nt -77 G>C	1	-	-	-
+?/?	1	HBB:c.-136C>A	-	-	HBB_01082	HbVar	-	-	beta+ thal	dbSNP;Meloni A et al.;	DNA	SEQ	-86 (C->A) beta+	1	-	D013789	-
+?/?	1	HBB:c.-136C>G	-	-	HBB_01083	HbVar	-	-	beta+ thal	(OMIM 0375);dbSNP;Thein SL et al.;Kazazian HH Jr et al.;	DNA	SEQ	-86 (C->G) beta+	1	-	D013789	-
+?/?	1	HBB:c.-137C>A	-	-	HBB_01079	HbVar	-	-	beta+ thal	dbSNP;Coleman MB et al.;	DNA	SEQ	-87 (C->A) beta+	1	-	D013789	-
+?/?	1	HBB:c.-137C>G	-	-	HBB_01080	HbVar	-	-	beta+ thal	(OMIM 0374);dbSNP;Ilhan O et al.;Gilman JG et al.;Camaschella C et al.;Diaz-Chico JC et al.;	DNA	SEQ	-87 (C->G) beta+	1	-	D013789	-
+?/?	1	HBB:c.-137C>T	-	-	HBB_01081	HbVar	-	-	beta+ thal	dbSNP;Kulozik AE et al.;	DNA	SEQ	-87 (C->T) beta+	1	-	D013789	-
+?/?	1	HBB:c.-138C>A	-	-	HBB_01077	HbVar	-	-	beta+ thal	(OMIM 0373);dbSNP;Rund D et al.;	DNA	SEQ	-88 (C->A) beta+	1	-	D013789	-
+?/?	1	HBB:c.-138C>G	-	-	HBB_01659	HbVar	-	-	beta (0 or + unclear) thal	dbSNP;Old J (E-5816-2010);	Protein	Amino	-88 (C>G)	1	-	D013789	-
+?/?	1	HBB:c.-138C>T	-	-	HBB_01078	HbVar	-	-	beta+ thal	(OMIM 0372);dbSNP;Huisman TH et al.;Gonzalez-Redondo JM et al.;Beris P et al.;Wong C et al.;	DNA	SEQ	-88 (C->T) beta+	1	-	D013789	-
+?/?	1	HBB:c.-140C>T	-	-	HBB_01076	HbVar	-	-	beta+ thal	(OMIM 0425);dbSNP;Faustino P et al.;	DNA	SEQ	-90 (C->T) beta+	1	-	D013789	-
+?/?	1	HBB:c.-142C>T	-	-	HBB_01075	HbVar	-	-	beta+ thal	(OMIM 0371);dbSNP;Rosatelli MC et al.;Divoky V et al.;Kazazian HH Jr et al.;	DNA	SEQ	-92 (C->T) beta+ (mild)	1	-	D013789	-
+?/?	1	HBB:c.-143C>G	-	-	HBB_01342	HbVar	-	-	beta+ thal	dbSNP;Giordano PC (A-9724-2010);Harteveld CL (E-4552-2010);	DNA	SEQ	-93 C>G	1	-	D013789	-
+?/?	1	HBB:c.-151C>T	-	-	HBB_01031	HbVar	-	-	beta+ thal	(OMIM 0370);dbSNP;Rund D et al.;Baysal E et al.;Galanello R et al.;Ristaldi MS et al.;	DNA	SEQ	-101 (C->T) beta+ (silent)	1	-	D013789	-
+?/?	1	HBB:c.-176C>T	-	-	HBB_01872	HbVar	-	-	rare variant	BASU Anupam (K-1838-2014)LALL Pinki; PANJA Amtita; SAHA Dipankar; HbVar A-2391-2010;	Protein	Amino	beta -176(C>T)	1	-	-	-
+?/?	1	HBB:c.-176_92+25del	-	-	HBB_01267	HbVar	-	-	beta0 thal	Aulehla-Scholz C et al.;Diaz-Chico JC et al.;	Protein	Amino	290 bp deletion beta0	1	-	D013789	-
+?/?	1	HBB:c.-18C>G	-	-	HBB_01095	HbVar	-	-	beta+ thal	dbSNP;Ho PJ et al.;	DNA	SEQ	5'UTR; +33 (C->G) beta+ (silent)	1	-	D013789	-
+?/?	1	HBB:c.-273T>C	-	-	HBB_01957	-	-	-	beta+ thal	Nagar R et al.;	Protein	Amino	beta nt -223 T>C	1	-	-	-
+?/?	1	HBB:c.-273T>C	-	-	HBB_02182	-	-	-	Thalassemia	dbSNP;Nagar R et al.;	Protein	Amino	beta nt -223 T>C	1	-	-	-
+?/?	1	HBB:c.-29G>A	-	-	HBB_01094	HbVar	-	-	beta+ thal	dbSNP;Cai SP et al.;Oner R et al.;	DNA	SEQ	5'UTR; +22 (G->A) beta+	1	-	D013789	-
+?/?	1	HBB:c.-31C>T	-	-	HBB_01339	HbVar	-	-	rare variant	dbSNP;Seelig HP; Wiemann C (B-1746-2010);HbVar A-2391-2010;Ropero P et al.;	DNA	SEQ	5'UTR; +20 (C>T)	1	-	-	-
+?/?	1	HBB:c.-41delT	-	-	HBB_01093	HbVar	-	-	beta+ thal	dbSNP;Athanassiadou A et al.;	DNA	SEQ	5'UTR; +10 (-T) beta+ (silent)	1	-	D013789	-
+?/?	1	HBB:c.-504_28del	-	-	HBB_01268	HbVar	-	-	beta0 thal	Waye JS et al.;	DNA	SEQ	532 bp deletion beta0	1	-	D013789	-
+?/?	1	HBB:c.-50A>C	-	-	HBB_01092	HbVar	-	-	beta+ thal	(OMIM 0387);dbSNP;Wong C et al.;	DNA	SEQ	CAP +1 (A->C) beta+	1	-	D013789	-
+?/?	1-2	HBB:c.-528_251del	-	-	HBB_01678	HbVar	-	-	beta0 thal	Old J (E-5816-2010);Gallienne AE et al.;	Protein	Amino	Afghan deletion beta0 (909 bp del)	1	-	D013789	-
+?/?	1	HBB:c.-6G>C	-	-	HBB_01941	HbVar	-	-	rare variant	Sahoo SS et al.;	Protein	Amino	HBB:c.-6G>C	1	-	-	-
+?/?	1	HBB:c.-74_31del	-	-	HBB_01266	HbVar	-	-	beta0 thal	-	Protein	Amino	105 bp deletion beta0	1	-	D013789	-
+?/?	1	HBB:c.-75G>C	-	-	HBB_01351	HbVar	-	-	beta (0 or + unclear) thal	dbSNP;Eng B; Waye JS (E-4075-2010);HbVar A-2391-2010;Eng B et al.;	DNA	SEQ	-25 (G>C)	1	-	D013789	-
+?/?	1	HBB:c.-76A>C	-	-	HBB_01667	HbVar	-	-	beta (0 or + unclear) thal	dbSNP;Waye JS (E-4075-2010);	Protein	Amino	-26 A>C	1	-	D013789	-
+?/?	1	HBB:c.-77_-76delAA	-	-	HBB_01353	HbVar	-	-	beta (0 or + unclear) thal	dbSNP;Eng B; Waye JS (E-4075-2010);HbVar A-2391-2010;Eng B et al.;	DNA	SEQ	-27 (-AA)	1	-	D013789	-
+?/?	1	HBB:c.-78A>C	-	-	HBB_01090	HbVar	-	-	beta+ thal	(OMIM 0380);dbSNP;Poncz M et al.;	DNA	SEQ	-28 (A->C) beta+	1	-	D013789	-
+?/?	1	HBB:c.-78A>G	-	-	HBB_01091	HbVar	-	-	beta+ thal	(OMIM 0381);dbSNP;Orkin SH et al.;	DNA	SEQ	-28 (A->G) beta+	1	-	D013789	-
+?/?	1	HBB:c.-79A>G	-	-	HBB_01089	HbVar	-	-	beta+ thal	(OMIM 0379);dbSNP;Gonzalez-Redondo JM et al.;Atweh GF et al.;Huisman TH et al.;Gonzalez-Redondo JM et al.;	DNA	SEQ	-29 (A->G) beta+	1	-	D013789	-
+?/?	1	HBB:c.-80T>A	-	-	HBB_01087	HbVar	-	-	beta+ thal	(OMIM 0377);dbSNP;Fattoum S et al.;Fei YJ et al.;	DNA	SEQ	-30 (T->A) beta+	1	-	D013789	-
+?/?	1	HBB:c.-80T>C	-	-	HBB_01088	HbVar	-	-	beta (0 or + unclear) thal	(OMIM 0378);dbSNP;Cai SP et al.;	DNA	SEQ	-30 (T->C) beta (0 or + unclear)	1	-	D013789	-
+?/?	1	HBB:c.-80T>G	-	-	HBB_01661	HbVar	-	-	beta (0 or + unclear) thal	dbSNP;Old J (E-5816-2010);	Protein	Amino	-30 T>G	1	-	D013789	-
+?/?	1	HBB:c.-81A>C	-	-	HBB_01085	HbVar	-	-	beta+ thal	dbSNP;Cao A; HbVar A-2391-2010;	Protein	Amino	-31 (A->C) beta+	1	-	D013789	-
+?/?	1	HBB:c.-81A>G	-	-	HBB_01086	HbVar	-	-	beta+ thal	(OMIM 0376);dbSNP;Takihara Y et al.;	DNA	SEQ	-31 (A->G) beta+	1	-	D013789	-
+?/?	1	HBB:c.-82C>A	-	-	HBB_01084	HbVar	-	-	beta+ thal	(OMIM 0406);dbSNP;Lin LI et al.;	DNA	SEQ	-32 (C->A) beta+	1	-	D013789	-
+?/?	1	HBB:c.-82C>T	-	-	HBB_01352	HbVar	-	-	beta (0 or + unclear) thal	dbSNP;Eng B; Waye JS (E-4075-2010);HbVar A-2391-2010;Eng B et al.;	DNA	SEQ	-32 (C>T)	1	-	D013789	-
+?/?	1	HBB:c.-92C>G	-	-	HBB_01956	-	-	-	rare variant	Nagar R et al.;	Protein	Amino	beta nt -42 C>G	1	-	-	-
+?/?	1	HBB:c.-92C>G	-	-	HBB_02181	-	-	-	Thalassemia	dbSNP;Nagar R et al.;	Protein	Amino	beta nt -42 C>G	1	-	-	-
+?/?	1	HBB:c.10C>A	-	p.Leu4Met	HBB_01653	HbVar	-	-	Hb variants	dbSNP;	DNA	SEQ	Hb Niguarda	1	-	D006455	-
+?/?	1	HBB:c.10C>G	-	p.Leu4Val	HBB_01274	HbVar	-	-	Hb variants	dbSNP;Harano T; HbVar A-2391-2010;	Protein	Amino	Hb Kamakura	1	-	D006455	-
+?/?	1	HBB:c.11T>A	-	p.Leu4Gln	HBB_01370	HbVar	-	-	Hb variants	dbSNP;Gallivan M (A-9986-2010);	DNA	SEQ	Hb Santo Domingo	1	-	D006455	-
+?/?	1	HBB:c.11T>C	-	p.Leu4Pro	HBB_01679	HbVar	-	-	Hb variants	dbSNP;Gallivan M (A-9986-2010);	Protein	Amino	Hb Jabalpur	1	-	D006455	-
+?/?	1	HBB:c.11T>G	-	p.Leu4Arg	HBB_02233	-	-	-	Hb variants	James D. Hoyer (F-7016-2010)	DNA	SEQ	Hb Sedgwick	1	-	-	-
+?/?	1	HBB:c.13A>C	-	p.Thr5Pro	HBB_01652	HbVar	-	-	Hb variants	dbSNP;Old J (E-5816-2010);	DNA	SEQ	Hb Benin City	1	-	D006455	-
+?/?	1	HBB:c.14C>A	-	p.Thr5Asn	HBB_01343	HbVar	-	-	Hb variants	dbSNP;Bisse E et al.;	DNA	SEQ	Hb Wurzburg	1	-	D006455	-
+?/?	1	HBB:c.14C>T	-	p.Thr5Ile	HBB_02241	-	-	-	Hb variants	James D. Hoyer (F-7016-2010)	DNA	SEQ	Hb Fox Point	1	-	-	-
+?/?	1	HBB:c.16C>G	-	p.Pro6Ala	HBB_01304	HbVar	-	-	Hb variants	dbSNP;Ito S et al.;Bisse E et al.;	DNA	SEQ	Hb Gorwihl	1	-	D006455	-
+?/?	1	HBB:c.16C>T	-	p.Pro6Ser	HBB_00677	HbVar	-	-	Hb variants	(OMIM 0451);dbSNP;Langdown JV et al.;	Protein	Amino	Hb Tyne	1	-	C091966	-
+?/?	1	HBB:c.17C>G	-	p.Pro6Arg	HBB_00676	HbVar	-	-	Hb variants	(OMIM 0296);dbSNP;SwissVar VAR_002861;Wilson CI et al.;	Protein	Amino	Hb Warwickshire	1	-	C043183	-
+?/?	1	HBB:c.17C>T	-	p.Pro6Leu	HBB_01613	HbVar	-	-	Hb variants	dbSNP;Couprie N; Francina A (E-3974-2010);Griffon C; Jolly P; HbVar A-2391-2010;Joly P et al.;	DNA	SEQ	Hb Aix-les-Bains	1	-	D006455	-
+?/?	1	HBB:c.17_18delCT	-	-	HBB_01105	HbVar	-	-	beta0 thal	dbSNP;Kollia P et al.;	DNA	SEQ	Codon 5 (-CT); CCT(Pro)->C-- beta0	1	-	D013789	-
+?/?	1	HBB:c.18_19delTG	-	-	HBB_01662	HbVar	-	-	beta (0 or + unclear) thal	dbSNP;Old J (E-5816-2010);	Protein	Amino	Codon 5/6 (-TG)	1	-	D013789	-
+?/?	1	HBB:c.19G>A	-	p.Glu7Lys	HBB_00679	HbVar	-	-	Hb variants	(OMIM 0038);dbSNP;SwissVar VAR_002864;	Protein	Amino	Hb C	1	-	D006444	-
+?/?	1	HBB:c.19G>C	-	p.Glu7Gln	HBB_00681	HbVar	-	-	Hb variants	(OMIM 0166);dbSNP;SwissVar VAR_002865;Harano T et al.;	Protein	Amino	Hb Machida	1	-	C036256	-
+?/?	1	HBB:c.1A>G	-	p.Met1Val	HBB_01097	HbVar	-	-	beta0 thal	dbSNP;Hattori Y et al.;	DNA	SEQ	Initiation codon ATG->GTG beta0	1	-	D013789	-
+?/?	1	HBB:c.20A>C	-	p.Glu7Ala	HBB_00680	HbVar	-	-	Hb variants	(OMIM 0085);dbSNP;SwissVar VAR_002862;Viprakasit V et al.;Blackwell RQ et al.;	Protein	Amino	Hb G-Makassar	1	-	C475065	-
+?/?	1	HBB:c.20A>G	-	p.Glu7Gly	HBB_01367	HbVar	-	-	Hb variants	dbSNP;Arsenio R; Dagna-Bricarelli F; Deiana F; Devoto G; Ivaldi G; Leone D; Parastatidou S; Tanca D; HbVar A-2391-2010;	DNA	SEQ	Hb Lavagna	1	-	D006455	-
+?/?	1	HBB:c.20A>T	-	p.Glu7Val	HBB_00678	HbVar	-	-	Hb variants	(OMIM 0243);dbSNP;SwissVar VAR_002863;	Protein	Amino	Hb S	1	-	D006455	-
+?/?	1	HBB:c.20delA	-	-	HBB_01106	HbVar	-	-	beta0 thal	dbSNP;Petkov GH et al.;Kazazian HH Jr et al.;Gonzalez-Redondo JM et al.;	Protein	Amino	Codon 6 (-A); GAG(Glu)->G-G beta0	1	-	D013789	-
+?/?	1	HBB:c.20_45del	-	-	HBB_01791	HbVar	-	-	beta0 thal	Edison ES et al.;	Protein	Amino	HBB:c.20_45del26	1	-	D013789	-
+?/?	1	HBB:c.22G>A	-	p.Glu8Lys	HBB_00683	HbVar	-	-	Hb variants	(OMIM 0263);dbSNP;SwissVar VAR_002867;Blackwell RQ et al.;	Protein	Amino	Hb G-Siriraj	1	-	C048606	-
+?/?	1	HBB:c.22G>C	-	p.Glu8Gln	HBB_01738	HbVar	-	-	Hb variants	dbSNP;Nardi M (B-5642-2011);Edison ES et al.;	Protein	Amino	Hb Bellevue III	1	-	D006455	-
+?/?	1	HBB:c.22_24delGAG	-	-	HBB_01057	HbVar	-	-	Hb variants	(OMIM 0156);dbSNP;Juricic D et al.;Rieder RF et al.;Lie-Injo LE et al.;Rieder RF et al.;	Protein	Amino	Hb Leiden	1	-	C029445	-
+?/?	1	HBB:c.23A>G	-	p.Glu8Gly	HBB_00682	HbVar	-	-	Hb variants	(OMIM 0086);dbSNP;SwissVar VAR_002866;Lacerra G et al.;Brancati C et al.;Wilson JB et al.;Musumeci S et al.;	Protein	Amino	Hb G-San José	1	-	C032126	-
+?/?	1	HBB:c.23A>T	-	p.Glu8Val	HBB_01911	HbVar	-	-	Hb variants	GIORDANO P. C.; HARTEVELD C. L.; HbVar A-2391-2010;Harteveld CL et al.;	Protein	Amino	Hb Haaglanden	1	-	D006455	-
+?/?	1	HBB:c.23_26dup	-	-	HBB_01844	HbVar	-	-	beta0 thal	PISSARD S. (F-8621-2010);Georgel AF et al.;	Protein	Amino	Codons 8/9 (+AGAA)	1	-	D013789	-
+?/?	1	HBB:c.24G>T	-	p.Glu8Asp	HBB_01719	HbVar	-	-	Hb variants	dbSNP;Bergman AC et al.;	Protein	Amino	Hb Stockholm	1	-	D006455	-
+?/?	1	HBB:c.24_25insG	-	-	HBB_01881	HbVar	-	-	beta0 thal	KUCEROVA Jana (F-1726-2013)Kynclova E et al.;	Protein	Amino	Codons 7/8 (+G); GAG AAG(Glu;Lys)->GAG G AAG beta0	1	-	-	-
+?/?	1	HBB:c.25A>C	-	p.Lys9Gln	HBB_00685	HbVar	-	-	Hb variants	(OMIM 0135);dbSNP;SwissVar VAR_002869;	Protein	Amino	Hb J-Luhe	1	-	D006455	-
+?/?	1	HBB:c.25A>G	-	p.Lys9Glu	HBB_00686	HbVar	-	-	Hb variants	(OMIM 0191);dbSNP;SwissVar VAR_002868;Lena-Russo D et al.;	Protein	Amino	Hb N-Timone	1	-	C031031	-
+?/?	1	HBB:c.25_26delAA	-	-	HBB_01107	HbVar	-	-	beta0 thal	dbSNP;Yang KG et al.;Orkin SH et al.;Orkin SH et al.;	DNA	SEQ	Codon 8 (-AA); AAG(Lys)->--G beta0	1	-	D013789	-
+?/?	1	HBB:c.26A>C	-	p.Lys9Thr	HBB_00684	HbVar	-	-	Hb variants	(OMIM 0237);dbSNP;SwissVar VAR_002870;Moo-Penn WF et al.;	Protein	Amino	Hb Rio Grande	1	-	C037712	-
+?/?	1	HBB:c.26A>G	-	p.Lys9Arg	HBB_01337	HbVar	-	-	Hb variants	dbSNP;Agarwal S et al.;	Protein	Amino	Hb Lucknow	1	-	C401761	-
+?/?	1	HBB:c.26A>T	-	p.Lys9Met	HBB_00687	HbVar	-	-	Hb variants	(OMIM 0460);dbSNP;Harano K et al.;	Protein	Amino	Hb Nakano	1	-	C098895	-
+?/?	1	HBB:c.27G>C	-	p.Lys9Asn	HBB_01282	HbVar	-	-	Hb variants	(OMIM 0504);dbSNP;Kleanthous M; HbVar A-2391-2010;Kyrri A et al.;	DNA	SEQ	Hb Limassol	1	-	C473011	-
+?/?	1	HBB:c.27_28insG	-	-	HBB_01108	HbVar	-	-	beta0 thal	(OMIM 0325);dbSNP;Pande PL et al.;	DNA	SEQ	Codons 8/9 (+G); AAG TCT(Lys;Ser)->AAG G TCT beta0	1	-	D013789	-
+?/?	1	HBB:c.29C>A	-	p.Ser10Tyr	HBB_01315	HbVar	-	-	Hb variants	(OMIM 0534);dbSNP;Francina A (E-3974-2010);Lacan P et al.;	Protein	Amino	Hb Brem-sur-Mer	1	-	C502561	-
+?/?	1	HBB:c.29C>G	-	p.Ser10Cys	HBB_00688	HbVar	-	-	Hb variants	(OMIM 0224);dbSNP;SwissVar VAR_002871;Baudin-Creuza V et al.;Goncalves MS et al.;Malcorra-Azpiazu JJ et al.;	Protein	Amino	Hb Pôrto Alegre	1	-	C034991	-
+?/?	1	HBB:c.29C>T	-	p.Ser10Phe	HBB_02044	-	-	-	Hb variants	Anping XU (K-9299-2018)	Protein	Amino	Hb Hengyang	1	-	-	-
+?/?	1	HBB:c.29C>T	-	p.Ser10Phe	HBB_02218	-	-	-	Hb variants	Anping Xu (K-9299-2018)	Protein	Amino	Hb Hengyang	1	-	-	-
+?/?	1	HBB:c.2T>A	-	p.Met1Lys	HBB_01348	HbVar	-	-	beta (0 or + unclear) thal	dbSNP;Lacan P et al.;	DNA	SEQ	Initiation codon T>A	1	-	D013789	-
+?/?	1	HBB:c.2T>C	-	p.Met1Thr	HBB_01098	HbVar	-	-	beta0 thal	(OMIM 0345);dbSNP;Jankovic L et al.;	DNA	SEQ	Initiation codon ATG->ACG beta0	1	-	D013789	-
+?/?	1	HBB:c.2T>G	-	p.Met1Arg	HBB_01099	HbVar	-	-	beta0 thal	(OMIM 0344);dbSNP;Koo MS et al.;Lam VM et al.;	DNA	SEQ	Initiation codon ATG->AGG beta0	1	-	D013789	-
+?/?	1	HBB:c.30delT	-	-	HBB_02041	-	-	-	Hb variants	KIRAT Emre (W-4436-2018)	Protein	Amino	Hb Antep	1	-	-	-
+?/?	1	HBB:c.30delT	-	-	HBB_02216	-	-	-	Hb variants	KIRAT Emre (W-4436-2018)	Protein	Amino	Hb Antep	1	-	-	-
+?/?	1	HBB:c.30_31insT	-	-	HBB_01109	HbVar	-	-	beta0 thal	dbSNP;	DNA	SEQ	Codons 9/10 (+T); TCT GCC(Ser;Ala)->TCT T GCC beta0	1	-	D013789	-
+?/?	1	HBB:c.30_dupT	-	-	HBB_02051	-	-	-	Hb variants	KIRAT Emre; HbVar A-2391-2010;	Protein	Amino	Hb Gaziantep	1	-	-	-
+?/?	1	HBB:c.30_dupT	-	-	HBB_02219	-	-	-	Hb variants	KIRAT Emre; HbVar A-2391-2010;	Protein	Amino	Hb Gaziantep	1	-	-	-
+?/?	1	HBB:c.31G>A	-	p.Ala11Thr	HBB_01371	HbVar	-	-	Hb variants	dbSNP;Gallivan M. (A-9986-2010);Williams JP et al.;	DNA	SEQ	Hb Belleville	1	-	D006455	-

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Sequence variations are described basically as recommended by the Ad-Hoc Committee for Mutation Nomenclature (AHCMN), with the recently suggested additions (den Dunnen JT and Antonarakis SE [2000], Hum.Mut. 15:7-12); for a summary see Nomenclature. Genomic Reference Sequence.
Path.: Variant pathogenicity, in the format Reported/Concluded; '+' indicating the variant is pathogenic, '+?' probably pathogenic, '-' no known pathogenicity, '-?' probably no pathogenicity, '?' effect unknown. Exon: Exon numbering. DNA change: Variation at DNA-level. If present, "Full Details" will show you the the full-length entry. RNA change: Variation at RNA-level, (?) unknown but probably identical to DNA. Protein: Variation at protein level. HBB DB-ID: Database IDentifier; When available, links to OMIM ID's are provided. HbVar link: HbVar link Frequency: Frequency if variant is non pathogenic. Re-site: Variant creates (+) or destroys (-) a restriction enzyme recognition site. Disease: Disease phenotype, as reported in paper/by submitter, unless modified by the curator. Reference: Reference describing the variation, "Submitted:" indicating that the mutation was submitted directly to this database. Template: Variant detected in DNA, RNA and/or Protein. Technique: Technique used to detect the variation. # Reported: Number of times this case has been reported Ethnic origin: Ethnic origin of patient Disease Mesh ID: Mesh ID Geographic origin: Geographic origin of patient

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beta globin (HBB)