ClinVar Miner

List of variants reported as uncertain significance for Pseudohypoaldosteronism, type IB1, autosomal recessive; Bronchiectasis with or without elevated sweat chloride 2; Liddle syndrome 3

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Total variants: 113
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HGVS dbSNP gnomAD frequency
NM_001038.6(SCNN1A):c.1216C>A (p.Leu406Ile) rs149484264 0.00029
NM_001038.6(SCNN1A):c.1559G>C (p.Gly520Ala) rs72657550 0.00022
NM_001038.6(SCNN1A):c.1426C>T (p.Arg476Trp) rs113622727 0.00020
NM_001038.6(SCNN1A):c.997C>T (p.Arg333Cys) rs146177203 0.00010
NM_001038.6(SCNN1A):c.746G>A (p.Arg249Lys) rs142409152 0.00009
NM_001038.6(SCNN1A):c.385G>A (p.Ala129Thr) rs141756749 0.00006
NM_001038.6(SCNN1A):c.1177G>A (p.Asp393Asn) rs886049758 0.00003
NM_001038.6(SCNN1A):c.1771C>T (p.Arg591Ter) rs771949339 0.00003
NM_001038.6(SCNN1A):c.2T>C (p.Met1Thr) rs779394345 0.00002
NM_001038.6(SCNN1A):c.319G>A (p.Gly107Arg) rs144763378 0.00002
NM_001038.6(SCNN1A):c.457A>T (p.Ile153Phe) rs775335440 0.00002
NM_001038.6(SCNN1A):c.777C>G (p.Ile259Met) rs866913999 0.00001
NM_001038.6(SCNN1A):c.944A>G (p.Asn315Ser) rs886049759 0.00001
NM_001038.6(SCNN1A):c.-54-13G>A rs573341191
NM_001038.6(SCNN1A):c.-55+1G>A
NM_001038.6(SCNN1A):c.100G>A (p.Glu34Lys)
NM_001038.6(SCNN1A):c.1017C>A (p.Phe339Leu)
NM_001038.6(SCNN1A):c.1035A>G (p.Thr345=)
NM_001038.6(SCNN1A):c.1048C>T (p.Arg350Trp)
NM_001038.6(SCNN1A):c.1056G>C (p.Met352Ile)
NM_001038.6(SCNN1A):c.1059G>A (p.Val353=)
NM_001038.6(SCNN1A):c.1075C>A (p.Pro359Thr)
NM_001038.6(SCNN1A):c.1075C>T (p.Pro359Ser)
NM_001038.6(SCNN1A):c.1107G>C (p.Leu369Phe)
NM_001038.6(SCNN1A):c.1116C>T (p.Gly372=)
NM_001038.6(SCNN1A):c.1117G>A (p.Val373Met)
NM_001038.6(SCNN1A):c.1132A>G (p.Ser378Gly)
NM_001038.6(SCNN1A):c.1144-14A>G
NM_001038.6(SCNN1A):c.1168G>A (p.Asp390Asn)
NM_001038.6(SCNN1A):c.1169A>T (p.Asp390Val)
NM_001038.6(SCNN1A):c.1198G>C (p.Asp400His)
NM_001038.6(SCNN1A):c.122C>T (p.Pro41Leu)
NM_001038.6(SCNN1A):c.1246_1281dup (p.Lys427_Glu428insCysIleHisSerCysPheGlnGluSerMetIleLys)
NM_001038.6(SCNN1A):c.124A>G (p.Thr42Ala)
NM_001038.6(SCNN1A):c.1256C>T (p.Ser419Phe)
NM_001038.6(SCNN1A):c.125C>T (p.Thr42Met)
NM_001038.6(SCNN1A):c.128C>T (p.Ala43Val)
NM_001038.6(SCNN1A):c.12C>A (p.Asn4Lys)
NM_001038.6(SCNN1A):c.1305C>G (p.Phe435Leu)
NM_001038.6(SCNN1A):c.1310C>T (p.Pro437Leu)
NM_001038.6(SCNN1A):c.1345A>C (p.Lys449Gln)
NM_001038.6(SCNN1A):c.1361G>A (p.Gly454Glu) rs72657557
NM_001038.6(SCNN1A):c.1361G>T (p.Gly454Val)
NM_001038.6(SCNN1A):c.1441G>A (p.Val481Met)
NM_001038.6(SCNN1A):c.1475G>T (p.Arg492Leu)
NM_001038.6(SCNN1A):c.1477T>G (p.Trp493Gly)
NM_001038.6(SCNN1A):c.1553+13C>T
NM_001038.6(SCNN1A):c.158G>A (p.Arg53His)
NM_001038.6(SCNN1A):c.1590G>C (p.Glu530Asp)
NM_001038.6(SCNN1A):c.1601A>G (p.Lys534Arg)
NM_001038.6(SCNN1A):c.1622C>T (p.Ser541Phe)
NM_001038.6(SCNN1A):c.1628C>T (p.Thr543Met)
NM_001038.6(SCNN1A):c.1629G>A (p.Thr543=)
NM_001038.6(SCNN1A):c.1657A>G (p.Ser553Gly)
NM_001038.6(SCNN1A):c.1693T>A (p.Ser565Thr)
NM_001038.6(SCNN1A):c.1706T>C (p.Met569Thr)
NM_001038.6(SCNN1A):c.1707G>A (p.Met569Ile)
NM_001038.6(SCNN1A):c.172_180del (p.Leu58_Glu60del)
NM_001038.6(SCNN1A):c.1735A>G (p.Ile579Val)
NM_001038.6(SCNN1A):c.1736T>C (p.Ile579Thr)
NM_001038.6(SCNN1A):c.1772G>A (p.Arg591Gln)
NM_001038.6(SCNN1A):c.1789C>T (p.Arg597Ter) rs771246219
NM_001038.6(SCNN1A):c.1790G>A (p.Arg597Gln)
NM_001038.6(SCNN1A):c.1841del (p.Pro614fs)
NM_001038.6(SCNN1A):c.1856C>A (p.Pro619His)
NM_001038.6(SCNN1A):c.1924C>G (p.Pro642Ala)
NM_001038.6(SCNN1A):c.1946C>T (p.Pro649Leu)
NM_001038.6(SCNN1A):c.1955C>G (p.Ser652Cys)
NM_001038.6(SCNN1A):c.1960G>A (p.Gly654Arg)
NM_001038.6(SCNN1A):c.1970C>T (p.Ala657Val)
NM_001038.6(SCNN1A):c.1987_1988inv (p.Thr663Val)
NM_001038.6(SCNN1A):c.2000G>A (p.Gly667Glu)
NM_001038.6(SCNN1A):c.251C>T (p.Thr84Met)
NM_001038.6(SCNN1A):c.265G>C (p.Val89Leu)
NM_001038.6(SCNN1A):c.26A>G (p.Gln9Arg)
NM_001038.6(SCNN1A):c.319G>C (p.Gly107Arg)
NM_001038.6(SCNN1A):c.339C>G (p.Pro113=)
NM_001038.6(SCNN1A):c.387A>G (p.Ala129=)
NM_001038.6(SCNN1A):c.418T>G (p.Tyr140Asp)
NM_001038.6(SCNN1A):c.429T>G (p.Ile143Met)
NM_001038.6(SCNN1A):c.454C>T (p.Arg152Cys)
NM_001038.6(SCNN1A):c.455G>A (p.Arg152His)
NM_001038.6(SCNN1A):c.470C>G (p.Thr157Arg)
NM_001038.6(SCNN1A):c.488A>C (p.Lys163Thr)
NM_001038.6(SCNN1A):c.489A>C (p.Lys163Asn)
NM_001038.6(SCNN1A):c.490T>C (p.Tyr164His)
NM_001038.6(SCNN1A):c.497C>A (p.Ser166Tyr)
NM_001038.6(SCNN1A):c.499T>C (p.Phe167Leu)
NM_001038.6(SCNN1A):c.511G>A (p.Val171Met)
NM_001038.6(SCNN1A):c.559C>G (p.Pro187Ala)
NM_001038.6(SCNN1A):c.564G>C (p.Leu188Phe)
NM_001038.6(SCNN1A):c.567_568delinsTT (p.Gln189_Arg190delinsHisCys)
NM_001038.6(SCNN1A):c.569G>T (p.Arg190Leu)
NM_001038.6(SCNN1A):c.575G>A (p.Arg192Lys)
NM_001038.6(SCNN1A):c.604C>G (p.Arg202Gly)
NM_001038.6(SCNN1A):c.615C>A (p.Ser205Arg)
NM_001038.6(SCNN1A):c.629T>G (p.Leu210Trp)
NM_001038.6(SCNN1A):c.641A>C (p.Asn214Thr)
NM_001038.6(SCNN1A):c.649G>A (p.Val217Met)
NM_001038.6(SCNN1A):c.654C>A (p.Asp218Glu)
NM_001038.6(SCNN1A):c.658A>G (p.Lys220Glu)
NM_001038.6(SCNN1A):c.678C>A (p.Phe226Leu)
NM_001038.6(SCNN1A):c.684+9_684+10insCCCCA
NM_001038.6(SCNN1A):c.733G>C (p.Val245Leu)
NM_001038.6(SCNN1A):c.758G>A (p.Arg253His)
NM_001038.6(SCNN1A):c.763C>T (p.His255Tyr)
NM_001038.6(SCNN1A):c.767A>G (p.Tyr256Cys)
NM_001038.6(SCNN1A):c.77G>A (p.Arg26His)
NM_001038.6(SCNN1A):c.875C>A (p.Ala292Glu)
NM_001038.6(SCNN1A):c.875C>T (p.Ala292Val)
NM_001038.6(SCNN1A):c.899C>T (p.Pro300Leu)
NM_001038.6(SCNN1A):c.940T>A (p.Ser314Thr)
NM_001038.6(SCNN1A):c.980-15_980-14delinsAA

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