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LOVD - Variant listings for HBB

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947 entries
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Exon Hide Exon column Descending
Ascending
DNA change   Descending
Ascending
RNA change Hide RNA change column Descending
Ascending
Protein Hide Protein column Descending
Ascending
DB-ID Hide DB-ID column Descending
Ascending
HbVar link Hide HbVar link column Descending
Ascending
Frequency Hide Frequency column Descending
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Re-site Hide Re-site column Descending
Ascending
1 HBB:c.-100G>A - - HBB_01666 HbVar - -
1 HBB:c.-106G>C - - HBB_01373 HbVar - -
1 HBB:c.-11_-8delAAAC - - HBB_01096 HbVar - -
1 HBB:c.-121C>T - - HBB_01660 HbVar - -
1 HBB:c.-122T>A - - HBB_01926 HbVar - -
1 HBB:c.-126C>A
  (Reported 2 times)		 - - HBB_02035 - - -
1 HBB:c.-127G>C
  (Reported 2 times)		 - - HBB_01982 - - -
1 HBB:c.-136C>A - - HBB_01082 HbVar - -
1 HBB:c.-136C>G - - HBB_01083 HbVar - -
1 HBB:c.-137C>A - - HBB_01079 HbVar - -
1 HBB:c.-137C>G - - HBB_01080 HbVar - -
1 HBB:c.-137C>T - - HBB_01081 HbVar - -
1 HBB:c.-138C>A - - HBB_01077 HbVar - -
1 HBB:c.-138C>G - - HBB_01659 HbVar - -
1 HBB:c.-138C>T - - HBB_01078 HbVar - -
1 HBB:c.-140C>T - - HBB_01076 HbVar - -
1 HBB:c.-142C>T - - HBB_01075 HbVar - -
1 HBB:c.-143C>G - - HBB_01342 HbVar - -
1 HBB:c.-151C>T - - HBB_01031 HbVar - -
1 HBB:c.-176C>T - - HBB_01872 HbVar - -
1 HBB:c.-176_92+25del - - HBB_01267 HbVar - -
1 HBB:c.-18C>G - - HBB_01095 HbVar - -
1 HBB:c.-273T>C
  (Reported 2 times)		 - - HBB_01957 - - -
1 HBB:c.-29G>A - - HBB_01094 HbVar - -
1 HBB:c.-31C>T - - HBB_01339 HbVar - -
1 HBB:c.-41delT - - HBB_01093 HbVar - -
1 HBB:c.-504_28del - - HBB_01268 HbVar - -
1 HBB:c.-50A>C - - HBB_01092 HbVar - -
1-2 HBB:c.-528_251del - - HBB_01678 HbVar - -
1 HBB:c.-6G>C - - HBB_01941 HbVar - -
1 HBB:c.-74_31del - - HBB_01266 HbVar - -
1 HBB:c.-75G>C - - HBB_01351 HbVar - -
1 HBB:c.-76A>C - - HBB_01667 HbVar - -
1 HBB:c.-77_-76delAA - - HBB_01353 HbVar - -
1 HBB:c.-78A>C - - HBB_01090 HbVar - -
1 HBB:c.-78A>G - - HBB_01091 HbVar - -
1 HBB:c.-79A>G - - HBB_01089 HbVar - -
1 HBB:c.-80T>A - - HBB_01087 HbVar - -
1 HBB:c.-80T>C - - HBB_01088 HbVar - -
1 HBB:c.-80T>G - - HBB_01661 HbVar - -
1 HBB:c.-81A>C - - HBB_01085 HbVar - -
1 HBB:c.-81A>G - - HBB_01086 HbVar - -
1 HBB:c.-82C>A - - HBB_01084 HbVar - -
1 HBB:c.-82C>T - - HBB_01352 HbVar - -
1 HBB:c.-92C>G
  (Reported 2 times)		 - - HBB_01956 - - -
1 HBB:c.10C>A - p.Leu4Met HBB_01653 HbVar - -
1 HBB:c.10C>G - p.Leu4Val HBB_01274 HbVar - -
1 HBB:c.11T>A - p.Leu4Gln HBB_01370 HbVar - -
1 HBB:c.11T>C - p.Leu4Pro HBB_01679 HbVar - -
1 HBB:c.11T>G - p.Leu4Arg HBB_02233 - - -
1 HBB:c.13A>C - p.Thr5Pro HBB_01652 HbVar - -
1 HBB:c.14C>A - p.Thr5Asn HBB_01343 HbVar - -
1 HBB:c.14C>T - p.Thr5Ile HBB_02241 - - -
1 HBB:c.16C>G - p.Pro6Ala HBB_01304 HbVar - -
1 HBB:c.16C>T - p.Pro6Ser HBB_00677 HbVar - -
1 HBB:c.17C>G - p.Pro6Arg HBB_00676 HbVar - -
1 HBB:c.17C>T - p.Pro6Leu HBB_01613 HbVar - -
1 HBB:c.17_18delCT - - HBB_01105 HbVar - -
1 HBB:c.18_19delTG - - HBB_01662 HbVar - -
1 HBB:c.19G>A - p.Glu7Lys HBB_00679 HbVar - -
1 HBB:c.19G>C - p.Glu7Gln HBB_00681 HbVar - -
1 HBB:c.1A>G - p.Met1Val HBB_01097 HbVar - -
1 HBB:c.20A>C - p.Glu7Ala HBB_00680 HbVar - -
1 HBB:c.20A>G - p.Glu7Gly HBB_01367 HbVar - -
1 HBB:c.20A>T - p.Glu7Val HBB_00678 HbVar - -
1 HBB:c.20delA - - HBB_01106 HbVar - -
1 HBB:c.20_45del - - HBB_01791 HbVar - -
1 HBB:c.22G>A - p.Glu8Lys HBB_00683 HbVar - -
1 HBB:c.22G>C - p.Glu8Gln HBB_01738 HbVar - -
1 HBB:c.22_24delGAG - - HBB_01057 HbVar - -
1 HBB:c.23A>G - p.Glu8Gly HBB_00682 HbVar - -
1 HBB:c.23A>T - p.Glu8Val HBB_01911 HbVar - -
1 HBB:c.23_26dup - - HBB_01844 HbVar - -
1 HBB:c.24G>T - p.Glu8Asp HBB_01719 HbVar - -
1 HBB:c.24_25insG - - HBB_01881 HbVar - -
1 HBB:c.25A>C - p.Lys9Gln HBB_00685 HbVar - -
1 HBB:c.25A>G - p.Lys9Glu HBB_00686 HbVar - -
1 HBB:c.25_26delAA - - HBB_01107 HbVar - -
1 HBB:c.26A>C - p.Lys9Thr HBB_00684 HbVar - -
1 HBB:c.26A>G - p.Lys9Arg HBB_01337 HbVar - -
1 HBB:c.26A>T - p.Lys9Met HBB_00687 HbVar - -
1 HBB:c.27G>C - p.Lys9Asn HBB_01282 HbVar - -
1 HBB:c.27_28insG - - HBB_01108 HbVar - -
1 HBB:c.29C>A - p.Ser10Tyr HBB_01315 HbVar - -
1 HBB:c.29C>G - p.Ser10Cys HBB_00688 HbVar - -
1 HBB:c.29C>T
  (Reported 2 times)		 - p.Ser10Phe HBB_02044 - - -
1 HBB:c.2T>A - p.Met1Lys HBB_01348 HbVar - -
1 HBB:c.2T>C - p.Met1Thr HBB_01098 HbVar - -
1 HBB:c.2T>G - p.Met1Arg HBB_01099 HbVar - -
1 HBB:c.30delT
  (Reported 2 times)		 - - HBB_02041 - - -
1 HBB:c.30_31insT - - HBB_01109 HbVar - -
1 HBB:c.30_dupT
  (Reported 2 times)		 - - HBB_02051 - - -
1 HBB:c.31G>A - p.Ala11Thr HBB_01371 HbVar - -
1 HBB:c.32C>A - p.Ala11Asp HBB_00689 HbVar - -
1 HBB:c.32C>T - p.Ala11Val HBB_00690 HbVar - -
1 HBB:c.33C>A - p.Ala11Ala HBB_01110 HbVar - -
1 HBB:c.34G>A - p.Val12Ile HBB_00691 HbVar - -
1 HBB:c.34G>T - p.Val12Phe HBB_00693 HbVar - -
1 HBB:c.35T>A - p.Val12Asp HBB_00692 HbVar - -
1 HBB:c.36delT - - HBB_01111 HbVar - -
1 - 100
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Legend: [ HBB full legend ]
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.
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.

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