ClinVar Miner

List of variants in gene SCNN1B reported by Preventiongenetics, part of Exact Sciences

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Total variants: 10
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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.1467-14G>A rs34618783 0.02274
NM_000336.3(SCNN1B):c.1543-17C>T rs35074083 0.00731
NM_000336.3(SCNN1B):c.1731C>T (p.Thr577=) rs61759923 0.00210
NM_000336.3(SCNN1B):c.1782G>A (p.Thr594=) rs13306628 0.00063
NM_000336.3(SCNN1B):c.1299C>T (p.Ser433=) rs149172890 0.00019
NM_000336.3(SCNN1B):c.1174C>T (p.Gln392Ter)
NM_000336.3(SCNN1B):c.776+5G>A

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