ClinVar Miner

List of variants in gene GJA1 studied for Inborn genetic diseases

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Total variants: 25
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HGVS dbSNP gnomAD frequency
NM_000165.5(GJA1):c.1039C>A (p.Leu347Ile) rs184583316 0.00017
NM_000165.5(GJA1):c.784T>C (p.Ser262Pro) rs149442143 0.00013
NM_000165.5(GJA1):c.508T>G (p.Leu170Val) rs377077470 0.00006
NM_000165.5(GJA1):c.1031C>G (p.Ser344Cys) rs776041829 0.00001
NM_000165.5(GJA1):c.1033A>G (p.Lys345Glu) rs764494850 0.00001
NM_000165.5(GJA1):c.1129C>T (p.Pro377Ser) rs762256080 0.00001
NM_000165.5(GJA1):c.917G>A (p.Ser306Asn) rs1582558792 0.00001
NM_000165.5(GJA1):c.1118G>C (p.Ser373Thr) rs2536823363
NM_000165.5(GJA1):c.113G>C (p.Gly38Ala) rs1554200990
NM_000165.5(GJA1):c.187A>C (p.Asn63His) rs1773900443
NM_000165.5(GJA1):c.349C>G (p.Gln117Glu)
NM_000165.5(GJA1):c.383A>G (p.Lys128Arg)
NM_000165.5(GJA1):c.397A>G (p.Lys133Glu)
NM_000165.5(GJA1):c.460A>G (p.Thr154Ala) rs2536821902
NM_000165.5(GJA1):c.604C>T (p.Arg202Cys) rs765192739
NM_000165.5(GJA1):c.718G>A (p.Val240Ile)
NM_000165.5(GJA1):c.719T>A (p.Val240Asp)
NM_000165.5(GJA1):c.75G>C (p.Trp25Cys) rs1773898476
NM_000165.5(GJA1):c.818C>T (p.Ser273Leu)
NM_000165.5(GJA1):c.832C>T (p.Leu278Phe) rs1253120600
NM_000165.5(GJA1):c.875A>T (p.Asp292Val) rs1234957832
NM_000165.5(GJA1):c.895C>T (p.Arg299Cys) rs748954821
NM_000165.5(GJA1):c.896G>T (p.Arg299Leu) rs778457698
NM_000165.5(GJA1):c.899A>G (p.Asn300Ser)
NM_000165.5(GJA1):c.992A>G (p.His331Arg)

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