ClinVar Miner

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

Included ClinVar conditions (2):
Minimum submission review status: Collection method:
Minimum conflict level:
Gene type:
ClinVar version:
Total variants: 20
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HGVS dbSNP
NM_000336.2(SCNN1B):c.-150C>G rs530631658
NM_000336.3(SCNN1B):c.*20G>A rs755277136
NM_000336.3(SCNN1B):c.*278C>T rs549628659
NM_000336.3(SCNN1B):c.1162C>T (p.Arg388Cys) rs61729788
NM_000336.3(SCNN1B):c.1221A>G (p.Pro407=) rs2303156
NM_000336.3(SCNN1B):c.1257C>T (p.Asp419=) rs2303155
NM_000336.3(SCNN1B):c.1270+14C>T rs141909058
NM_000336.3(SCNN1B):c.1346+8C>T rs200714599
NM_000336.3(SCNN1B):c.1401C>T (p.Ser467=) rs74012901
NM_000336.3(SCNN1B):c.1419C>T (p.His473=) rs193211556
NM_000336.3(SCNN1B):c.1545C>T (p.Ile515=) rs61759916
NM_000336.3(SCNN1B):c.1686A>G (p.Leu562=) rs541449814
NM_000336.3(SCNN1B):c.1706C>T (p.Ala569Val) rs140927806
NM_000336.3(SCNN1B):c.1765G>A (p.Gly589Ser) rs61759926
NM_000336.3(SCNN1B):c.1782G>A (p.Thr594=) rs13306628
NM_000336.3(SCNN1B):c.1883T>A (p.Leu628Gln) rs72654356
NM_000336.3(SCNN1B):c.1887C>T (p.Asp629=) rs61759917
NM_000336.3(SCNN1B):c.282C>T (p.Ala94=) rs139950628
NM_000336.3(SCNN1B):c.466C>T (p.Arg156Trp) rs139310448
NM_000336.3(SCNN1B):c.777-5T>C rs61759915

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