ClinVar Miner

List of variants in gene SCNN1G studied for bronchial disorder

Included ClinVar conditions (27):
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Gene type:
ClinVar version:
Total variants: 115
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HGVS dbSNP gnomAD frequency
NM_001039.4(SCNN1G):c.1176+14A>G rs5740 0.75623
NM_001039.4(SCNN1G):c.1493+33T>G rs13306654 0.21983
NM_001039.4(SCNN1G):c.1947C>G (p.Leu649=) rs5723 0.21902
NM_001039.4(SCNN1G):c.1494-49A>G rs11643517 0.21174
NM_001039.4(SCNN1G):c.1432-7G>A rs13306653 0.21170
NM_001039.4(SCNN1G):c.547G>A (p.Gly183Ser) rs5736 0.01206
NM_001039.4(SCNN1G):c.435C>T (p.Ser145=) rs62639702 0.00693
NM_001039.4(SCNN1G):c.589G>A (p.Glu197Lys) rs5738 0.00548
NM_001039.4(SCNN1G):c.1570-9G>A rs72647540 0.00354
NM_001039.4(SCNN1G):c.1589A>G (p.Asn530Ser) rs148985177 0.00066
NM_001039.4(SCNN1G):c.1779_1781dup (p.Pro594_Ala595insPro) rs770495447 0.00033
NM_001039.4(SCNN1G):c.1532T>A (p.Leu511Gln) rs113234492 0.00023
NM_001039.4(SCNN1G):c.1465G>C (p.Gly489Arg) rs72647529 0.00009
NM_001039.4(SCNN1G):c.699C>T (p.His233=) rs192839222 0.00009
NM_001039.4(SCNN1G):c.1827G>C (p.Leu609Phe) rs745715995 0.00008
NM_001039.4(SCNN1G):c.470G>A (p.Arg157Gln) rs181420353 0.00007
NM_001039.4(SCNN1G):c.835A>T (p.Met279Leu) rs147244467 0.00007
NM_001039.4(SCNN1G):c.1738C>T (p.Pro580Ser) rs1019380433 0.00006
NM_001039.4(SCNN1G):c.539G>A (p.Arg180Gln) rs546893551 0.00006
NM_001039.4(SCNN1G):c.436G>A (p.Val146Ile) rs528336880 0.00005
NM_001039.4(SCNN1G):c.551G>T (p.Gly184Val) rs569006664 0.00005
NM_001039.4(SCNN1G):c.1082A>T (p.Glu361Val) rs201308208 0.00004
NM_001039.4(SCNN1G):c.1891C>T (p.Arg631Cys) rs150854967 0.00003
NM_001039.4(SCNN1G):c.410G>A (p.Arg137His) rs752038199 0.00003
NM_001039.4(SCNN1G):c.564C>A (p.His188Gln) rs899371749 0.00003
NM_001039.4(SCNN1G):c.1400G>A (p.Ser467Asn) rs925384893 0.00002
NM_001039.4(SCNN1G):c.1131T>G (p.Ser377Arg) rs202104927 0.00001
NM_001039.4(SCNN1G):c.1187A>G (p.His396Arg) rs202142122 0.00001
NM_001039.4(SCNN1G):c.1455T>C (p.Thr485=) rs1270059843 0.00001
NM_001039.4(SCNN1G):c.1798G>A (p.Asp600Asn) rs772835346 0.00001
NM_001039.4(SCNN1G):c.1808C>G (p.Pro603Arg) rs1349054540 0.00001
NM_001039.4(SCNN1G):c.1868C>T (p.Pro623Leu) rs72647542 0.00001
NM_001039.4(SCNN1G):c.326C>G (p.Thr109Ser) rs775694446 0.00001
NM_001039.4(SCNN1G):c.538C>T (p.Arg180Trp) rs763601481 0.00001
NM_001039.4(SCNN1G):c.576T>A (p.Asn192Lys) rs1001641230 0.00001
NM_001039.4(SCNN1G):c.896T>C (p.Met299Thr) rs186947558 0.00001
NM_001039.4(SCNN1G):c.899G>C (p.Gly300Ala) rs771938926 0.00001
NM_001039.4(SCNN1G):c.-4C>T
NM_001039.4(SCNN1G):c.1072C>T (p.His358Tyr) rs762357961
NM_001039.4(SCNN1G):c.1078-3C>T
NM_001039.4(SCNN1G):c.1093C>A (p.Leu365Met)
NM_001039.4(SCNN1G):c.1118C>T (p.Thr373Met)
NM_001039.4(SCNN1G):c.1126G>A (p.Gly376Arg)
NM_001039.4(SCNN1G):c.1135G>A (p.Val379Met)
NM_001039.4(SCNN1G):c.1151T>C (p.Ile384Thr)
NM_001039.4(SCNN1G):c.1154A>G (p.Tyr385Cys)
NM_001039.4(SCNN1G):c.1191A>T (p.Ser397=)
NM_001039.4(SCNN1G):c.1204A>C (p.Lys402Gln)
NM_001039.4(SCNN1G):c.1229C>T (p.Ala410Val)
NM_001039.4(SCNN1G):c.1281G>T (p.Gln427His)
NM_001039.4(SCNN1G):c.1284C>T (p.His428=) rs749657510
NM_001039.4(SCNN1G):c.1313T>A (p.Leu438Gln)
NM_001039.4(SCNN1G):c.1336G>A (p.Glu446Lys)
NM_001039.4(SCNN1G):c.133G>A (p.Val45Met)
NM_001039.4(SCNN1G):c.1373+29T>C rs12708649
NM_001039.4(SCNN1G):c.1428G>A (p.Ser476=)
NM_001039.4(SCNN1G):c.142dup (p.Arg48fs) rs1596760831
NM_001039.4(SCNN1G):c.1431+20C>T
NM_001039.4(SCNN1G):c.1494-9A>G
NM_001039.4(SCNN1G):c.1517T>C (p.Ile506Thr)
NM_001039.4(SCNN1G):c.1526A>G (p.Lys509Arg)
NM_001039.4(SCNN1G):c.152T>C (p.Leu51Pro)
NM_001039.4(SCNN1G):c.1550T>A (p.Met517Lys) rs144653364
NM_001039.4(SCNN1G):c.1550T>C (p.Met517Thr) rs144653364
NM_001039.4(SCNN1G):c.1561G>A (p.Ala521Thr)
NM_001039.4(SCNN1G):c.1570-9G>C
NM_001039.4(SCNN1G):c.1576A>T (p.Met526Leu) rs907257211
NM_001039.4(SCNN1G):c.1586C>T (p.Ser529Phe)
NM_001039.4(SCNN1G):c.1648A>T (p.Ile550Phe)
NM_001039.4(SCNN1G):c.1654G>A (p.Val552Ile) rs2141946564
NM_001039.4(SCNN1G):c.1685C>T (p.Ala562Val)
NM_001039.4(SCNN1G):c.1690C>T (p.Arg564Cys)
NM_001039.4(SCNN1G):c.1742G>C (p.Cys581Ser)
NM_001039.4(SCNN1G):c.1859C>T (p.Pro620Leu)
NM_001039.4(SCNN1G):c.1874C>G (p.Pro625Arg) rs1960144557
NM_001039.4(SCNN1G):c.1874C>T (p.Pro625Leu) rs1960144557
NM_001039.4(SCNN1G):c.1904C>A (p.Ala635Asp)
NM_001039.4(SCNN1G):c.1936C>G (p.Leu646Val)
NM_001039.4(SCNN1G):c.199A>G (p.Ile67Val)
NM_001039.4(SCNN1G):c.201C>G (p.Ile67Met) rs2543567150
NM_001039.4(SCNN1G):c.211T>G (p.Cys71Gly)
NM_001039.4(SCNN1G):c.263A>G (p.His88Arg)
NM_001039.4(SCNN1G):c.296T>C (p.Ile99Thr)
NM_001039.4(SCNN1G):c.318G>A (p.Lys106=)
NM_001039.4(SCNN1G):c.328G>A (p.Val110Ile)
NM_001039.4(SCNN1G):c.343G>A (p.Ala115Thr)
NM_001039.4(SCNN1G):c.35A>G (p.Lys12Arg)
NM_001039.4(SCNN1G):c.371C>G (p.Ala124Gly)
NM_001039.4(SCNN1G):c.412C>T (p.Arg138Ter) rs866495683
NM_001039.4(SCNN1G):c.416_417del (p.Glu139fs)
NM_001039.4(SCNN1G):c.443A>G (p.Glu148Gly)
NM_001039.4(SCNN1G):c.476C>T (p.Pro159Leu)
NM_001039.4(SCNN1G):c.493C>G (p.Gln165Glu)
NM_001039.4(SCNN1G):c.505G>A (p.Gly169Ser)
NM_001039.4(SCNN1G):c.550G>A (p.Gly184Ser)
NM_001039.4(SCNN1G):c.568G>C (p.Ala190Pro)
NM_001039.4(SCNN1G):c.605T>A (p.Val202Glu)
NM_001039.4(SCNN1G):c.618+5G>A
NM_001039.4(SCNN1G):c.619-11C>T
NM_001039.4(SCNN1G):c.662C>T (p.Ser221Leu)
NM_001039.4(SCNN1G):c.674C>A (p.Ala225Asp)
NM_001039.4(SCNN1G):c.68C>T (p.Pro23Leu)
NM_001039.4(SCNN1G):c.747G>A (p.Met249Ile)
NM_001039.4(SCNN1G):c.772G>A (p.Val258Met)
NM_001039.4(SCNN1G):c.818C>T (p.Thr273Met)
NM_001039.4(SCNN1G):c.819G>C (p.Thr273=) rs201341816
NM_001039.4(SCNN1G):c.833C>G (p.Pro278Arg)
NM_001039.4(SCNN1G):c.87G>A (p.Met29Ile)
NM_001039.4(SCNN1G):c.88C>G (p.Arg30Gly)
NM_001039.4(SCNN1G):c.890C>A (p.Thr297Asn)
NM_001039.4(SCNN1G):c.913+2_913+5dup rs772227366
NM_001039.4(SCNN1G):c.929T>C (p.Leu310Ser)
NM_001039.4(SCNN1G):c.936A>G (p.Ile312Met)
NM_001039.4(SCNN1G):c.93G>T (p.Trp31Cys)
NM_001039.4(SCNN1G):c.964G>A (p.Val322Met)

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