ClinVar Miner

List of variants reported as likely benign for Liddle syndrome

Included ClinVar conditions (8):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 49
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HGVS dbSNP gnomAD frequency
NM_001038.6(SCNN1A):c.540G>T (p.Leu180=) rs55859427 0.01886
NM_001039.4(SCNN1G):c.547G>A (p.Gly183Ser) rs5736 0.01206
NM_001039.4(SCNN1G):c.435C>T (p.Ser145=) rs62639702 0.00693
NM_001039.4(SCNN1G):c.589G>A (p.Glu197Lys) rs5738 0.00548
NM_000336.3(SCNN1B):c.282C>T (p.Ala94=) rs139950628 0.00524
NM_000336.3(SCNN1B):c.245C>G (p.Ser82Cys) rs35731153 0.00463
NM_001038.6(SCNN1A):c.684+9C>T rs111317117 0.00357
NM_001039.4(SCNN1G):c.1570-9G>A rs72647540 0.00354
NM_000336.3(SCNN1B):c.1731C>T (p.Thr577=) rs61759923 0.00197
NM_000336.3(SCNN1B):c.1765G>A (p.Gly589Ser) rs61759926 0.00178
NM_000336.3(SCNN1B):c.147A>G (p.Lys49=) rs80027401 0.00141
NM_000336.3(SCNN1B):c.466C>T (p.Arg156Trp) rs139310448 0.00132
NM_000336.3(SCNN1B):c.1152+10T>C rs72654341 0.00108
NM_000336.3(SCNN1B):c.1190G>T (p.Arg397Leu) rs61729789 0.00093
NM_001039.4(SCNN1G):c.1589A>G (p.Asn530Ser) rs148985177 0.00066
NM_000336.3(SCNN1B):c.1706C>T (p.Ala569Val) rs140927806 0.00051
NM_000336.2(SCNN1B):c.-150C>G rs530631658 0.00038
NM_000336.3(SCNN1B):c.1764T>C (p.Phe588=) rs762486495 0.00024
NM_000336.3(SCNN1B):c.1299C>T (p.Ser433=) rs149172890 0.00019
NM_000336.3(SCNN1B):c.1257C>T (p.Asp419=) rs2303155 0.00016
NM_001039.4(SCNN1G):c.*597dup rs566227302 0.00015
NM_000336.3(SCNN1B):c.1376T>C (p.Met459Thr) rs201369319 0.00011
NM_001038.6(SCNN1A):c.1074A>G (p.Glu358=) rs149430403 0.00011
NM_000336.3(SCNN1B):c.*20G>A rs755277136 0.00010
NM_000336.3(SCNN1B):c.1789C>T (p.Arg597Cys) rs373718332 0.00009
NM_001038.6(SCNN1A):c.1554A>G (p.Arg518=) rs570566104 0.00009
NM_001039.4(SCNN1G):c.699C>T (p.His233=) rs192839222 0.00009
NM_000336.3(SCNN1B):c.1229G>A (p.Arg410His) rs200966246 0.00008
NM_000336.3(SCNN1B):c.586-15T>C rs371098444 0.00008
NM_001039.4(SCNN1G):c.1827G>C (p.Leu609Phe) rs745715995 0.00008
NM_000336.3(SCNN1B):c.1041C>T (p.Leu347=) rs201864704 0.00006
NM_000336.3(SCNN1B):c.428C>T (p.Ser143Phe) rs199810483 0.00006
NM_001039.4(SCNN1G):c.132C>T (p.Ile44=) rs774767092 0.00005
NM_000336.3(SCNN1B):c.177C>T (p.Phe59=) rs778937866 0.00004
NM_000336.3(SCNN1B):c.246C>T (p.Ser82=) rs757137077 0.00004
NM_001039.4(SCNN1G):c.399G>A (p.Glu133=) rs200985912 0.00004
NM_000336.3(SCNN1B):c.1900G>C (p.Asp634His) rs776613953 0.00003
NM_000336.3(SCNN1B):c.617G>A (p.Arg206Gln) rs201279350 0.00003
NM_000336.3(SCNN1B):c.657C>T (p.Tyr219=) rs746821073 0.00002
NM_001039.4(SCNN1G):c.1455T>C (p.Thr485=) rs1270059843 0.00001
NM_001039.4(SCNN1G):c.538C>T (p.Arg180Trp) rs763601481 0.00001
NM_000336.3(SCNN1B):c.1270+11G>T rs369905217
NM_000336.3(SCNN1B):c.590G>C (p.Ser197Thr) rs1015356051
NM_001038.6(SCNN1A):c.1109G>A (p.Arg370Gln)
NM_001038.6(SCNN1A):c.1440C>T (p.Ser480=)
NM_001038.6(SCNN1A):c.540_541delinsTT (p.Arg181Trp) rs876657425
NM_001039.4(SCNN1G):c.1078-17TGC[3] rs72647517
NM_001039.4(SCNN1G):c.1550T>A (p.Met517Lys) rs144653364
NM_001039.4(SCNN1G):c.819G>C (p.Thr273=) rs201341816

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