ClinVar Miner

List of variants in gene GJA1 reported as pathogenic by OMIM

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Gene type:
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Total variants: 23
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HGVS dbSNP gnomAD frequency
NM_000165.5(GJA1):c.1127G>A (p.Arg376Gln) rs104893965 0.00019
NM_000165.5(GJA1):c.1085G>A (p.Arg362Gln) rs2227885 0.00014
NM_000165.5(GJA1):c.716G>A (p.Arg239Gln) rs764670582 0.00004
NM_000165.5(GJA1):c.227G>A (p.Arg76His) rs267606844 0.00003
NM_000165.5(GJA1):c.120_131del (p.Val41_Ala44del) rs1562173999
NM_000165.5(GJA1):c.131C>T (p.Ala44Val) rs794729675
NM_000165.5(GJA1):c.154_156dup (p.Phe52dup) rs1582558097
NM_000165.5(GJA1):c.226C>A (p.Arg76Ser) rs267606845
NM_000165.5(GJA1):c.23G>T (p.Gly8Val) rs864309644
NM_000165.5(GJA1):c.286G>A (p.Val96Met) rs28931601
NM_000165.5(GJA1):c.31C>T (p.Leu11Phe) rs387906616
NM_000165.5(GJA1):c.32T>C (p.Leu11Pro) rs121912969
NM_000165.5(GJA1):c.427G>A (p.Gly143Ser) rs28931600
NM_000165.5(GJA1):c.50A>C (p.Tyr17Ser) rs104893961
NM_000165.5(GJA1):c.52T>C (p.Ser18Pro) rs104893962
NM_000165.5(GJA1):c.581A>C (p.His194Pro) rs104893966
NM_000165.5(GJA1):c.617A>G (p.Lys206Arg) rs397518464
NM_000165.5(GJA1):c.61G>A (p.Gly21Arg) rs104893963
NM_000165.5(GJA1):c.65G>A (p.Gly22Glu) rs104893964
NM_000165.5(GJA1):c.681A>T (p.Glu227Asp) rs875989815
NM_000165.5(GJA1):c.689_690del (p.Tyr230fs) rs1582558514
NM_000165.5(GJA1):c.780_781del (p.Cys260fs) rs1582558666
NM_000165.5(GJA1):c.97C>T (p.Arg33Ter) rs121912970

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