ClinVar Miner

List of variants in gene GJB1 reported as likely pathogenic by Invitae

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Total variants: 34
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HGVS dbSNP gnomAD frequency
NM_000166.6(GJB1):c.102G>A (p.Met34Ile) rs1060501000
NM_000166.6(GJB1):c.113T>C (p.Val38Ala) rs863224612
NM_000166.6(GJB1):c.132G>C (p.Trp44Cys) rs879253935
NM_000166.6(GJB1):c.153C>A (p.Phe51Leu) rs2147945283
NM_000166.6(GJB1):c.163A>G (p.Thr55Ala) rs863224613
NM_000166.6(GJB1):c.173C>G (p.Pro58Arg) rs1602348876
NM_000166.6(GJB1):c.179G>A (p.Cys60Tyr) rs1555937082
NM_000166.6(GJB1):c.212T>C (p.Ile71Thr)
NM_000166.6(GJB1):c.241C>T (p.Leu81Phe) rs876661143
NM_000166.6(GJB1):c.257C>T (p.Thr86Ile) rs1602349017
NM_000166.6(GJB1):c.269T>C (p.Leu90Pro) rs1602349045
NM_000166.6(GJB1):c.280C>T (p.His94Tyr) rs1602349087
NM_000166.6(GJB1):c.300C>G (p.His100Gln) rs1602349137
NM_000166.6(GJB1):c.307A>G (p.Lys103Glu) rs1131691322
NM_000166.6(GJB1):c.311A>T (p.Lys104Ile) rs1602349166
NM_000166.6(GJB1):c.34G>A (p.Gly12Ser) rs1555936999
NM_000166.6(GJB1):c.376C>T (p.His126Tyr) rs879253995
NM_000166.6(GJB1):c.392T>C (p.Leu131Pro) rs1555937166
NM_000166.6(GJB1):c.413G>C (p.Ser138Thr)
NM_000166.6(GJB1):c.42C>G (p.Asn14Lys) rs1262031967
NM_000166.6(GJB1):c.447C>A (p.Phe149Leu) rs2147946194
NM_000166.6(GJB1):c.475G>A (p.Gly159Ser) rs1555937194
NM_000166.6(GJB1):c.491G>T (p.Arg164Leu) rs1241595912
NM_000166.6(GJB1):c.529G>A (p.Val177Met) rs1569215351
NM_000166.6(GJB1):c.53C>G (p.Thr18Ser) rs1555937015
NM_000166.6(GJB1):c.542T>A (p.Val181Glu) rs876661252
NM_000166.6(GJB1):c.563CCGTCTTCA[1] (p.188TVF[1]) rs116840823
NM_000166.6(GJB1):c.59T>C (p.Ile20Thr) rs1569215025
NM_000166.6(GJB1):c.602G>A (p.Cys201Tyr) rs1602349730
NM_000166.6(GJB1):c.632A>G (p.Tyr211Cys) rs2092546039
NM_000166.6(GJB1):c.72G>C (p.Trp24Cys) rs1602348658
NM_000166.6(GJB1):c.72G>T (p.Trp24Cys) rs1602348658
NM_000166.6(GJB1):c.772del (p.Ser258fs) rs1602349940
NM_000166.6(GJB1):c.807_808del (p.Ala271fs) rs1602350012

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