ClinVar Miner

List of variants reported as pathogenic for Liddle syndrome 2 by OMIM

Included ClinVar conditions (2):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 4
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HGVS dbSNP gnomAD frequency
NM_001039.4(SCNN1G):c.1589A>G (p.Asn530Ser) rs148985177 0.00069
NM_001039.4(SCNN1G):c.1699C>T (p.Gln567Ter) rs2141946607
NM_001039.4(SCNN1G):c.1718G>A (p.Trp573Ter) rs137853342
NM_001039.4(SCNN1G):c.1749_1753del (p.Glu583fs) rs1567270184

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