ClinVar Miner

List of variants in gene SCNN1G reported as uncertain significance for Inborn genetic diseases

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Total variants: 36
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HGVS dbSNP gnomAD frequency
NM_001039.4(SCNN1G):c.1465G>C (p.Gly489Arg) rs72647529 0.00009
NM_001039.4(SCNN1G):c.835A>T (p.Met279Leu) rs147244467 0.00007
NM_001039.4(SCNN1G):c.1714T>C (p.Trp572Arg) rs751165472 0.00006
NM_001039.4(SCNN1G):c.1738C>T (p.Pro580Ser) rs1019380433 0.00006
NM_001039.4(SCNN1G):c.1555A>G (p.Ser519Gly) rs771136581 0.00005
NM_001039.4(SCNN1G):c.410G>A (p.Arg137His) rs752038199 0.00003
NM_001039.4(SCNN1G):c.1131T>G (p.Ser377Arg) rs202104927 0.00001
NM_001039.4(SCNN1G):c.1468C>T (p.Arg490Trp) rs72647530 0.00001
NM_001039.4(SCNN1G):c.1688G>A (p.Arg563His) rs1002329797 0.00001
NM_001039.4(SCNN1G):c.1811C>T (p.Thr604Ile) rs768437751 0.00001
NM_001039.4(SCNN1G):c.326C>G (p.Thr109Ser) rs775694446 0.00001
NM_001039.4(SCNN1G):c.446G>C (p.Gly149Ala) rs754747376 0.00001
NM_001039.4(SCNN1G):c.896T>C (p.Met299Thr) rs186947558 0.00001
NM_001039.4(SCNN1G):c.988A>G (p.Ile330Val) rs778529470 0.00001
NM_001039.4(SCNN1G):c.1027G>A (p.Val343Met) rs1246891667
NM_001039.4(SCNN1G):c.1031G>C (p.Gly344Ala)
NM_001039.4(SCNN1G):c.1121A>G (p.Glu374Gly)
NM_001039.4(SCNN1G):c.1208T>C (p.Met403Thr)
NM_001039.4(SCNN1G):c.1229C>T (p.Ala410Val)
NM_001039.4(SCNN1G):c.1382A>T (p.Glu461Val) rs2506185892
NM_001039.4(SCNN1G):c.1420G>C (p.Val474Leu) rs758959059
NM_001039.4(SCNN1G):c.1541G>A (p.Arg514Lys)
NM_001039.4(SCNN1G):c.1544C>T (p.Ser515Phe)
NM_001039.4(SCNN1G):c.1576A>T (p.Met526Leu) rs907257211
NM_001039.4(SCNN1G):c.1578G>A (p.Met526Ile)
NM_001039.4(SCNN1G):c.1654G>A (p.Val552Ile) rs2141946564
NM_001039.4(SCNN1G):c.1751C>T (p.Ala584Val)
NM_001039.4(SCNN1G):c.1910C>T (p.Ser637Phe)
NM_001039.4(SCNN1G):c.332G>A (p.Arg111His) rs371061652
NM_001039.4(SCNN1G):c.332G>C (p.Arg111Pro) rs371061652
NM_001039.4(SCNN1G):c.343G>A (p.Ala115Thr)
NM_001039.4(SCNN1G):c.457A>G (p.Arg153Gly) rs1186597571
NM_001039.4(SCNN1G):c.553A>G (p.Ser185Gly)
NM_001039.4(SCNN1G):c.622T>A (p.Ser208Thr)
NM_001039.4(SCNN1G):c.847T>G (p.Cys283Gly)
NM_001039.4(SCNN1G):c.974C>T (p.Thr325Ile)

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