ClinVar Miner

List of variants in gene SCNN1B reported as likely benign for autosomal recessive pseudohypoaldosteronism type 1

Included ClinVar conditions (4):
Minimum submission review status: Collection method:
Minimum conflict level:
Gene type:
ClinVar version:
Total variants: 16
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HGVS dbSNP gnomAD frequency
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.1731C>T (p.Thr577=) rs61759923 0.00210
NM_000336.3(SCNN1B):c.1883T>A (p.Leu628Gln) rs72654356 0.00186
NM_000336.3(SCNN1B):c.1765G>A (p.Gly589Ser) rs61759926 0.00180
NM_000336.3(SCNN1B):c.147A>G (p.Lys49=) rs80027401 0.00141
NM_000336.3(SCNN1B):c.1152+10T>C rs72654341 0.00108
NM_000336.3(SCNN1B):c.1190G>T (p.Arg397Leu) rs61729789 0.00101
NM_000336.3(SCNN1B):c.1782G>A (p.Thr594=) rs13306628 0.00063
NM_000336.2(SCNN1B):c.-150C>G rs530631658 0.00022
NM_000336.3(SCNN1B):c.1299C>T (p.Ser433=) rs149172890 0.00019
NM_000336.3(SCNN1B):c.1257C>T (p.Asp419=) rs2303155 0.00016
NM_000336.3(SCNN1B):c.*20G>A rs755277136 0.00010
NM_000336.3(SCNN1B):c.177C>T (p.Phe59=) rs778937866 0.00004

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