ClinVar Miner

List of variants reported as pathogenic for Liddle syndrome 1

Included ClinVar conditions (2):
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ClinVar version:
Total variants: 9
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HGVS dbSNP gnomAD frequency
NM_000336.3(SCNN1B):c.1696C>T (p.Arg566Ter) rs137852704 0.00001
NM_000336.3(SCNN1B):c.648dup (p.Glu217fs) rs747116196 0.00001
NM_000336.3(SCNN1B):c.1735_1766del (p.Ala579Leufs*4) rs2142050610
NM_000336.3(SCNN1B):c.1847C>G (p.Pro616Arg) rs387906402
NM_000336.3(SCNN1B):c.1847C>T (p.Pro616Leu) rs387906402
NM_000336.3(SCNN1B):c.1849C>T (p.Pro617Ser) rs137852708
NM_000336.3(SCNN1B):c.1850C>T (p.Pro617Leu)
NM_000336.3(SCNN1B):c.1858T>C (p.Tyr620His) rs137852707
SCNN1B, 1-BP INS, 592C

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