ClinVar Miner

List of variants reported as uncertain significance for Bronchiectasis with or without elevated sweat chloride 1; Liddle syndrome 1; Pseudohypoaldosteronism, type IB2, autosomal recessive by Fulgent Genetics, Fulgent Genetics

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Total variants: 97
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HGVS dbSNP gnomAD frequency
NM_000336.3(SCNN1B):c.803A>G (p.His268Arg) rs138004955 0.00029
NM_000336.3(SCNN1B):c.857C>T (p.Ser286Leu) rs142531781 0.00021
NM_000336.3(SCNN1B):c.1466+18C>T rs201318322 0.00019
NM_000336.3(SCNN1B):c.1790G>A (p.Arg597His) rs140945152 0.00016
NM_000336.3(SCNN1B):c.1870C>T (p.Arg624Cys) rs372132399 0.00016
NM_000336.3(SCNN1B):c.1688G>A (p.Arg563Gln) rs149868979 0.00014
NM_000336.3(SCNN1B):c.1757C>T (p.Thr586Ile) rs147926991 0.00014
NM_000336.3(SCNN1B):c.1105C>A (p.Pro369Thr) rs137852711 0.00012
NM_000336.3(SCNN1B):c.1789C>T (p.Arg597Cys) rs373718332 0.00009
NM_000336.3(SCNN1B):c.1229G>A (p.Arg410His) rs200966246 0.00008
NM_000336.3(SCNN1B):c.1310G>A (p.Arg437Lys) rs375817973 0.00007
NM_000336.3(SCNN1B):c.1514G>A (p.Arg505His) rs138784278 0.00007
NM_000336.3(SCNN1B):c.153G>A (p.Met51Ile) rs372994709 0.00007
NM_000336.3(SCNN1B):c.1894G>A (p.Glu632Lys) rs140609339 0.00007
NM_000336.3(SCNN1B):c.467G>A (p.Arg156Gln) rs765336896 0.00007
NM_000336.3(SCNN1B):c.428C>T (p.Ser143Phe) rs199810483 0.00006
NM_000336.3(SCNN1B):c.1703A>C (p.Gln568Pro) rs72654354 0.00005
NM_000336.3(SCNN1B):c.562G>A (p.Gly188Arg) rs368632136 0.00005
NM_000336.3(SCNN1B):c.91G>A (p.Asp31Asn) rs370777535 0.00005
NM_000336.3(SCNN1B):c.1904G>A (p.Ser635Asn) rs13306629 0.00004
NM_000336.3(SCNN1B):c.1335G>C (p.Lys445Asn) rs371686339 0.00003
NM_000336.3(SCNN1B):c.1642G>A (p.Val548Met) rs764818802 0.00003
NM_000336.3(SCNN1B):c.1270+6C>T rs552841992 0.00001
NM_000336.3(SCNN1B):c.1313A>G (p.Glu438Gly) rs749772908 0.00001
NM_000336.3(SCNN1B):c.1687C>T (p.Arg563Trp) rs974067274 0.00001
NM_000336.3(SCNN1B):c.1819G>A (p.Glu607Lys) rs1418217615 0.00001
NM_000336.3(SCNN1B):c.1831C>G (p.Pro611Ala) rs1042193654 0.00001
NM_000336.3(SCNN1B):c.1838C>T (p.Pro613Leu) rs1391471777 0.00001
NM_000336.3(SCNN1B):c.554A>T (p.Asn185Ile) rs528582647 0.00001
NM_000336.3(SCNN1B):c.7G>A (p.Val3Met) rs750974115 0.00001
NM_000336.3(SCNN1B):c.863A>G (p.Asn288Ser) rs137852712 0.00001
NM_000336.3(SCNN1B):c.943G>A (p.Gly315Arg) rs908355642 0.00001
NM_000336.3(SCNN1B):c.1006G>A (p.Ala336Thr)
NM_000336.3(SCNN1B):c.1039C>T (p.Leu347Phe) rs2506479668
NM_000336.3(SCNN1B):c.1042G>A (p.Val348Met)
NM_000336.3(SCNN1B):c.1044+4T>G
NM_000336.3(SCNN1B):c.1049A>G (p.Lys350Arg)
NM_000336.3(SCNN1B):c.1049A>T (p.Lys350Met)
NM_000336.3(SCNN1B):c.1066G>A (p.Glu356Lys)
NM_000336.3(SCNN1B):c.1115A>T (p.Asn372Ile) rs1555489480
NM_000336.3(SCNN1B):c.1189C>T (p.Arg397Cys)
NM_000336.3(SCNN1B):c.118C>T (p.Arg40Cys)
NM_000336.3(SCNN1B):c.1228C>T (p.Arg410Cys) rs200401219
NM_000336.3(SCNN1B):c.1243T>C (p.Cys415Arg)
NM_000336.3(SCNN1B):c.1286A>G (p.Asp429Gly)
NM_000336.3(SCNN1B):c.1299C>A (p.Ser433Arg)
NM_000336.3(SCNN1B):c.12G>T (p.Lys4Asn)
NM_000336.3(SCNN1B):c.1304C>T (p.Ala435Val)
NM_000336.3(SCNN1B):c.1346+16C>T
NM_000336.3(SCNN1B):c.1367C>T (p.Thr456Ile)
NM_000336.3(SCNN1B):c.1369A>G (p.Ile457Val)
NM_000336.3(SCNN1B):c.1436G>A (p.Arg479Gln)
NM_000336.3(SCNN1B):c.1475T>A (p.Ile492Asn)
NM_000336.3(SCNN1B):c.1475T>C (p.Ile492Thr)
NM_000336.3(SCNN1B):c.1492T>G (p.Tyr498Asp)
NM_000336.3(SCNN1B):c.14A>G (p.Lys5Arg)
NM_000336.3(SCNN1B):c.1501G>A (p.Glu501Lys)
NM_000336.3(SCNN1B):c.1543-6C>T
NM_000336.3(SCNN1B):c.1566G>C (p.Leu522=)
NM_000336.3(SCNN1B):c.1614C>A (p.Ile538=)
NM_000336.3(SCNN1B):c.1714G>T (p.Ala572Ser)
NM_000336.3(SCNN1B):c.1736C>G (p.Ala579Gly)
NM_000336.3(SCNN1B):c.1750G>A (p.Ala584Thr)
NM_000336.3(SCNN1B):c.1774C>T (p.Pro592Ser)
NM_000336.3(SCNN1B):c.1784C>T (p.Ala595Val)
NM_000336.3(SCNN1B):c.178G>A (p.Ala60Thr)
NM_000336.3(SCNN1B):c.1795C>T (p.Pro599Ser)
NM_000336.3(SCNN1B):c.1817G>C (p.Ser606Thr)
NM_000336.3(SCNN1B):c.1817G>T (p.Ser606Ile)
NM_000336.3(SCNN1B):c.1822C>A (p.Gln608Lys)
NM_000336.3(SCNN1B):c.1826C>T (p.Ala609Val)
NM_000336.3(SCNN1B):c.1871G>A (p.Arg624His)
NM_000336.3(SCNN1B):c.1880C>T (p.Pro627Leu)
NM_000336.3(SCNN1B):c.1910G>T (p.Gly637Val)
NM_000336.3(SCNN1B):c.232G>A (p.Glu78Lys)
NM_000336.3(SCNN1B):c.240C>T (p.Ser80=)
NM_000336.3(SCNN1B):c.268A>G (p.Met90Val)
NM_000336.3(SCNN1B):c.283G>A (p.Val95Ile)
NM_000336.3(SCNN1B):c.361G>A (p.Ala121Thr)
NM_000336.3(SCNN1B):c.394A>G (p.Ser132Gly)
NM_000336.3(SCNN1B):c.445C>G (p.Pro149Ala)
NM_000336.3(SCNN1B):c.448C>G (p.Leu150Val)
NM_000336.3(SCNN1B):c.451G>C (p.Val151Leu)
NM_000336.3(SCNN1B):c.486G>T (p.Met162Ile)
NM_000336.3(SCNN1B):c.556G>C (p.Ala186Pro)
NM_000336.3(SCNN1B):c.586-6C>A
NM_000336.3(SCNN1B):c.589A>G (p.Ser197Gly)
NM_000336.3(SCNN1B):c.625A>C (p.Thr209Pro)
NM_000336.3(SCNN1B):c.705A>G (p.Leu235=)
NM_000336.3(SCNN1B):c.76C>A (p.Leu26Met)
NM_000336.3(SCNN1B):c.775C>T (p.Arg259Trp)
NM_000336.3(SCNN1B):c.815G>A (p.Cys272Tyr)
NM_000336.3(SCNN1B):c.866C>G (p.Pro289Arg)
NM_000336.3(SCNN1B):c.88T>C (p.Cys30Arg)
NM_000336.3(SCNN1B):c.932C>T (p.Ala311Val)
NM_000336.3(SCNN1B):c.935C>T (p.Ser312Phe)
NM_000336.3(SCNN1B):c.998G>A (p.Gly333Asp)

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