ClinVar Miner

List of variants in gene SCNN1B reported as uncertain significance for Liddle syndrome

Included ClinVar conditions (4):
Minimum submission review status: Collection method:
Minimum conflict level:
Gene type:
ClinVar version:
Total variants: 21
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HGVS dbSNP
NM_000336.3(SCNN1B):c.*187G>A rs886051816
NM_000336.3(SCNN1B):c.*241G>A
NM_000336.3(SCNN1B):c.*278C>T rs549628659
NM_000336.3(SCNN1B):c.*446C>A
NM_000336.3(SCNN1B):c.*94G>A rs72654359
NM_000336.3(SCNN1B):c.1069C>A (p.Pro357Thr)
NM_000336.3(SCNN1B):c.1199A>G (p.Asn400Ser)
NM_000336.3(SCNN1B):c.1256A>T (p.Asp419Val)
NM_000336.3(SCNN1B):c.1271-10T>C rs886051814
NM_000336.3(SCNN1B):c.1336G>A (p.Glu446Lys)
NM_000336.3(SCNN1B):c.1404+15G>A rs886051815
NM_000336.3(SCNN1B):c.1404+7C>T
NM_000336.3(SCNN1B):c.159C>T (p.Phe53=) rs749106839
NM_000336.3(SCNN1B):c.1713C>T (p.Tyr571=) rs758251652
NM_000336.3(SCNN1B):c.1745T>A (p.Val582Glu)
NM_000336.3(SCNN1B):c.1760A>G (p.Asn587Ser) rs769244277
NM_000336.3(SCNN1B):c.467G>A (p.Arg156Gln)
NM_000336.3(SCNN1B):c.561C>T (p.His187=) rs773448523
NM_000336.3(SCNN1B):c.748C>G (p.Leu250Val)
NM_000336.3(SCNN1B):c.753C>T (p.Phe251=) rs748167291
NM_000336.3(SCNN1B):c.776+9C>A

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