ClinVar Miner

List of variants reported as likely benign for Liddle syndrome 1 by Illumina Laboratory Services, Illumina

Included ClinVar conditions (2):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 12
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HGVS dbSNP gnomAD frequency
NM_000336.3(SCNN1B):c.1765G>A (p.Gly589Ser) rs61759926 0.00180
NM_000336.3(SCNN1B):c.1764T>C (p.Phe588=) rs762486495 0.00024
NM_000336.2(SCNN1B):c.-150C>G rs530631658 0.00022
NM_000336.3(SCNN1B):c.*20G>A rs755277136 0.00010
NM_000336.3(SCNN1B):c.1789C>T (p.Arg597Cys) rs373718332 0.00009
NM_000336.3(SCNN1B):c.1229G>A (p.Arg410His) rs200966246 0.00007
NM_000336.3(SCNN1B):c.428C>T (p.Ser143Phe) rs199810483 0.00006
NM_000336.3(SCNN1B):c.586-15T>C rs371098444 0.00006
NM_000336.3(SCNN1B):c.246C>T (p.Ser82=) rs757137077 0.00004
NM_000336.3(SCNN1B):c.617G>A (p.Arg206Gln) rs201279350 0.00003
NM_000336.3(SCNN1B):c.1270+11G>T rs369905217
NM_001039.4(SCNN1G):c.*597dup rs566227302

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