ClinVar Miner

List of variants in gene GJA3 reported as uncertain significance for Inborn genetic diseases

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Total variants: 31
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HGVS dbSNP gnomAD frequency
NM_021954.4(GJA3):c.1060C>G (p.Pro354Ala) rs770718484 0.00031
NM_021954.4(GJA3):c.395C>T (p.Ser132Leu) rs145026721 0.00027
NM_021954.4(GJA3):c.463T>G (p.Phe155Val) rs370564317 0.00007
NM_021954.4(GJA3):c.253G>A (p.Val85Met) rs752081323 0.00004
NM_021954.4(GJA3):c.1088C>T (p.Ala363Val) rs950387904 0.00003
NM_021954.4(GJA3):c.715G>C (p.Gly239Arg) rs761959857 0.00002
NM_021954.4(GJA3):c.1063G>T (p.Val355Phe) rs746840779 0.00001
NM_021954.4(GJA3):c.1202C>T (p.Ala401Val) rs767950248 0.00001
NM_021954.4(GJA3):c.245T>A (p.Ile82Asn) rs931390998 0.00001
NM_021954.4(GJA3):c.905T>G (p.Leu302Arg) rs758716786 0.00001
NM_021954.4(GJA3):c.919G>A (p.Gly307Arg) rs759710076 0.00001
NM_021954.4(GJA3):c.1061C>T (p.Pro354Leu) rs1958812375
NM_021954.4(GJA3):c.1192G>A (p.Val398Met) rs1958810767
NM_021954.4(GJA3):c.1240C>G (p.Pro414Ala) rs1047204525
NM_021954.4(GJA3):c.1246C>T (p.Arg416Trp)
NM_021954.4(GJA3):c.1283C>T (p.Ala428Val)
NM_021954.4(GJA3):c.1303A>G (p.Ile435Val) rs776596399
NM_021954.4(GJA3):c.1304T>C (p.Ile435Thr)
NM_021954.4(GJA3):c.302G>A (p.Arg101His)
NM_021954.4(GJA3):c.308A>C (p.Glu103Ala)
NM_021954.4(GJA3):c.406C>T (p.Arg136Cys)
NM_021954.4(GJA3):c.487T>A (p.Phe163Ile) rs1593333779
NM_021954.4(GJA3):c.539G>A (p.Arg180His) rs1449356205
NM_021954.4(GJA3):c.565A>C (p.Thr189Pro) rs764077955
NM_021954.4(GJA3):c.565A>G (p.Thr189Ala)
NM_021954.4(GJA3):c.625G>A (p.Ala209Thr)
NM_021954.4(GJA3):c.635G>A (p.Cys212Tyr)
NM_021954.4(GJA3):c.68A>G (p.Lys23Arg) rs2500174559
NM_021954.4(GJA3):c.721G>A (p.Asp241Asn) rs777200073
NM_021954.4(GJA3):c.742G>T (p.Gly248Trp)
NM_021954.4(GJA3):c.848G>A (p.Arg283His) rs1204382177

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