ClinVar Miner

List of variants studied for Liddle syndrome by Johns Hopkins Genomics, Johns Hopkins University

Included ClinVar conditions (6):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 5
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HGVS dbSNP gnomAD frequency
NM_000336.3(SCNN1B):c.466C>T (p.Arg156Trp) rs139310448 0.00132
NM_000336.3(SCNN1B):c.1706C>T (p.Ala569Val) rs140927806 0.00051
NM_000336.3(SCNN1B):c.1760A>G (p.Asn587Ser) rs769244277 0.00001
NM_000336.3(SCNN1B):c.1256A>T (p.Asp419Val) rs1962882235
NM_001039.4(SCNN1G):c.637G>A (p.Asp213Asn)

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