ClinVar Miner

List of variants studied for Liddle syndrome by OMIM

Included ClinVar conditions (4):
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Total variants: 12
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HGVS dbSNP
NM_000336.3(SCNN1B):c.1696C>T (p.Arg566Ter) rs137852704
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.1858T>C (p.Tyr620His) rs137852707
NM_001038.6(SCNN1A):c.1435T>C (p.Cys479Arg)
NM_001039.4(SCNN1G):c.1718G>A (p.Trp573Ter) rs137853342
NM_001039.4(SCNN1G):c.1749_1753del (p.Glu583fs) rs1567270184
SCNN1B, 1-BP INS, 592C
SCNN1B, 32-BP DEL
SCNN1G, ASN530SER
SCNN1G, GLN567TER

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