ClinVar Miner

List of variants in gene SCNN1B reported by Athena Diagnostics Inc

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Total variants: 26
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HGVS dbSNP gnomAD frequency
NM_000336.3(SCNN1B):c.279T>C (p.Pro93=) rs238547 0.66128
NM_000336.3(SCNN1B):c.879C>T (p.Phe293=) rs250563 0.10382
NM_000336.3(SCNN1B):c.1325G>T (p.Gly442Val) rs1799980 0.03941
NM_000336.3(SCNN1B):c.1162C>T (p.Arg388Cys) rs61729788 0.00962
NM_000336.3(SCNN1B):c.1543-17C>T rs35074083 0.00731
NM_000336.3(SCNN1B):c.282C>T (p.Ala94=) rs139950628 0.00551
NM_000336.3(SCNN1B):c.245C>G (p.Ser82Cys) rs35731153 0.00463
NM_000336.3(SCNN1B):c.777-5T>C rs61759915 0.00311
NM_000336.3(SCNN1B):c.1401C>T (p.Ser467=) rs74012901 0.00290
NM_000336.3(SCNN1B):c.1883T>A (p.Leu628Gln) rs72654356 0.00186
NM_000336.3(SCNN1B):c.147A>G (p.Lys49=) rs80027401 0.00141
NM_000336.3(SCNN1B):c.181G>A (p.Ala61Thr) rs72654321 0.00135
NM_000336.3(SCNN1B):c.1887C>T (p.Asp629=) rs61759917 0.00123
NM_000336.3(SCNN1B):c.1152+10T>C rs72654341 0.00108
NM_000336.3(SCNN1B):c.1888G>A (p.Val630Ile) rs72654357 0.00089
NM_000336.3(SCNN1B):c.880+10G>A rs200089599 0.00029
NM_000336.3(SCNN1B):c.1696C>T (p.Arg566Ter) rs137852704 0.00001
NM_000336.3(SCNN1B):c.187G>A (p.Val63Ile) rs1039766661 0.00001
NM_000336.3(SCNN1B):c.1163G>A (p.Arg388His)
NM_000336.3(SCNN1B):c.1595G>A (p.Gly532Asp) rs1030331682
NM_000336.3(SCNN1B):c.1747G>T (p.Glu583Ter) rs1555490554
NM_000336.3(SCNN1B):c.1789del (p.Arg597fs) rs758629218
NM_000336.3(SCNN1B):c.1789dup (p.Arg597fs) rs758629218
NM_000336.3(SCNN1B):c.1847C>T (p.Pro616Leu) rs387906402
NM_000336.3(SCNN1B):c.1852C>T (p.Pro618Ser) rs536187488
NM_000336.3(SCNN1B):c.1854dup (p.Asn619fs) rs1963032146

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