ClinVar Miner

List of variants studied for intellectual disability, X-linked 49

Included ClinVar conditions (1):
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Total variants: 75
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HGVS dbSNP gnomAD frequency
NM_001830.4(CLCN4):c.1758G>A (p.Val586=) rs143437511 0.00287
NM_001830.4(CLCN4):c.2030C>T (p.Thr677Met) rs41297324 0.00083
NM_001830.4(CLCN4):c.1175A>G (p.Gln392Arg) rs761118786 0.00004
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.112G>T (p.Glu38Ter) rs2147167432
NM_001830.4(CLCN4):c.1185C>G (p.Ser395Arg)
NM_001830.4(CLCN4):c.1202T>C (p.Leu401Pro) rs1924450715
NM_001830.4(CLCN4):c.130G>A (p.Asp44Asn)
NM_001830.4(CLCN4):c.1360G>A (p.Val454Ile)
NM_001830.4(CLCN4):c.1399G>A (p.Gly467Ser) rs1602159841
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.1576G>A (p.Gly526Ser) rs1555976973
NM_001830.4(CLCN4):c.1597G>A (p.Val533Met)
NM_001830.4(CLCN4):c.1606G>A (p.Val536Met) rs1569231897
NM_001830.4(CLCN4):c.1622A>T (p.Glu541Val)
NM_001830.4(CLCN4):c.1630G>A (p.Gly544Arg) rs587777161
NM_001830.4(CLCN4):c.1631G>A (p.Gly544Glu)
NM_001830.4(CLCN4):c.1646T>A (p.Ile549Asn)
NM_001830.4(CLCN4):c.1646T>C (p.Ile549Thr) rs1924631837
NM_001830.4(CLCN4):c.1648G>C (p.Val550Leu)
NM_001830.4(CLCN4):c.1664C>T (p.Ala555Val) rs879255583
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.1987_1990del (p.Gln663fs)
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.2152C>T (p.Arg718Trp) rs879255584
NM_001830.4(CLCN4):c.2167C>T (p.Arg723Trp) rs1924842665
NM_001830.4(CLCN4):c.2191G>C (p.Gly731Arg) rs1569233549
NM_001830.4(CLCN4):c.2192G>T (p.Gly731Val)
NM_001830.4(CLCN4):c.232G>A (p.Gly78Ser) rs1569226551
NM_001830.4(CLCN4):c.373del (p.Asp125fs) rs1924061524
NM_001830.4(CLCN4):c.43_55del (p.Asp15fs) rs1923775114
NM_001830.4(CLCN4):c.469A>C (p.Ile157Leu) rs913431577
NM_001830.4(CLCN4):c.608C>T (p.Thr203Ile)
NM_001830.4(CLCN4):c.661C>G (p.Leu221Val) rs1569230006
NM_001830.4(CLCN4):c.677C>T (p.Pro226Leu)
NM_001830.4(CLCN4):c.740dup (p.Asn248fs) rs2147178526
NM_001830.4(CLCN4):c.823G>C (p.Val275Leu)
NM_001830.4(CLCN4):c.826C>T (p.Leu276Phe)
NM_001830.4(CLCN4):c.832del (p.Ser278fs) rs1924399093
NM_001830.4(CLCN4):c.835C>G (p.Leu279Val)
NM_001830.4(CLCN4):c.840A>T (p.Glu280Asp)
NM_001830.4(CLCN4):c.848G>A (p.Ser283Asn)
NM_001830.4(CLCN4):c.875G>A (p.Trp292Ter) rs2147179499
NM_001830.4(CLCN4):c.87C>G (p.Asp29Glu)
NM_001830.4(CLCN4):c.914T>C (p.Leu305Pro)
NM_001830.4(CLCN4):c.925_928del (p.Asn309fs)
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.949G>A (p.Val317Ile) rs1064796023
NM_001830.4(CLCN4):c.956T>C (p.Phe319Ser)

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