ClinVar Miner

List of variants in gene CLCN4 reported as uncertain significance for intellectual disability, X-linked 49

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Total variants: 47
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HGVS dbSNP gnomAD frequency
NM_001830.4(CLCN4):c.11C>T (p.Ala4Val) rs201381518 0.00003
NM_001830.4(CLCN4):c.2102C>T (p.Pro701Leu) rs763898442 0.00003
NM_001830.4(CLCN4):c.2153G>A (p.Arg718Gln) rs779824005 0.00003
NM_001830.4(CLCN4):c.1820C>T (p.Pro607Leu) rs1042357480 0.00002
NM_001830.4(CLCN4):c.652G>A (p.Gly218Ser) rs767349582 0.00002
NM_001830.4(CLCN4):c.10G>T (p.Ala4Ser) rs1015209935 0.00001
NM_001830.4(CLCN4):c.1909G>C (p.Val637Leu) rs376523351 0.00001
NM_001830.4(CLCN4):c.2000G>A (p.Gly667Asp) rs953773970 0.00001
NM_001830.4(CLCN4):c.2003T>C (p.Ile668Thr) rs1924836688 0.00001
NM_001830.4(CLCN4):c.2051C>T (p.Pro684Leu) rs1246068842 0.00001
NM_001830.4(CLCN4):c.100G>A (p.Asp34Asn)
NM_001830.4(CLCN4):c.1025G>A (p.Gly342Glu)
NM_001830.4(CLCN4):c.1051C>G (p.Arg351Gly) rs763535956
NM_001830.4(CLCN4):c.1078C>A (p.Arg360Ser)
NM_001830.4(CLCN4):c.1078C>T (p.Arg360Cys) rs1602157389
NM_001830.4(CLCN4):c.1090A>G (p.Arg364Gly)
NM_001830.4(CLCN4):c.1106C>T (p.Pro369Leu) rs1924447309
NM_001830.4(CLCN4):c.1185C>G (p.Ser395Arg)
NM_001830.4(CLCN4):c.130G>A (p.Asp44Asn)
NM_001830.4(CLCN4):c.1360G>A (p.Val454Ile)
NM_001830.4(CLCN4):c.1436C>T (p.Ala479Val)
NM_001830.4(CLCN4):c.1439G>T (p.Gly480Val) rs2147182640
NM_001830.4(CLCN4):c.1561G>A (p.Ala521Thr) rs1924590136
NM_001830.4(CLCN4):c.1597G>A (p.Val533Met)
NM_001830.4(CLCN4):c.1646T>A (p.Ile549Asn)
NM_001830.4(CLCN4):c.1648G>C (p.Val550Leu)
NM_001830.4(CLCN4):c.1680G>C (p.Lys560Asn)
NM_001830.4(CLCN4):c.1849A>G (p.Met617Val) rs2147183851
NM_001830.4(CLCN4):c.185A>G (p.Lys62Arg)
NM_001830.4(CLCN4):c.1886C>T (p.Thr629Ile)
NM_001830.4(CLCN4):c.1904C>G (p.Pro635Arg)
NM_001830.4(CLCN4):c.2038C>A (p.Pro680Thr) rs142375213
NM_001830.4(CLCN4):c.206C>T (p.Ser69Leu)
NM_001830.4(CLCN4):c.209G>T (p.Gly70Val)
NM_001830.4(CLCN4):c.2167C>T (p.Arg723Trp) rs1924842665
NM_001830.4(CLCN4):c.2192G>T (p.Gly731Val)
NM_001830.4(CLCN4):c.469A>C (p.Ile157Leu) rs913431577
NM_001830.4(CLCN4):c.677C>T (p.Pro226Leu)
NM_001830.4(CLCN4):c.823G>C (p.Val275Leu)
NM_001830.4(CLCN4):c.826C>T (p.Leu276Phe)
NM_001830.4(CLCN4):c.848G>A (p.Ser283Asn)
NM_001830.4(CLCN4):c.87C>G (p.Asp29Glu)
NM_001830.4(CLCN4):c.914T>C (p.Leu305Pro)
NM_001830.4(CLCN4):c.926A>G (p.Asn309Ser) rs2147179530
NM_001830.4(CLCN4):c.928C>T (p.Pro310Ser)
NM_001830.4(CLCN4):c.944G>A (p.Arg315His) rs1374813094
NM_001830.4(CLCN4):c.956T>C (p.Phe319Ser)

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