ClinVar Miner

List of variants in gene SCNN1B reported as uncertain significance for Liddle syndrome

Included ClinVar conditions (6):
Minimum submission review status: Collection method:
Minimum conflict level:
Gene type:
ClinVar version:
Total variants: 29
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HGVS dbSNP gnomAD frequency
NM_000336.3(SCNN1B):c.*241G>A rs529644900 0.00040
NM_000336.3(SCNN1B):c.*278C>T rs549628659 0.00038
NM_000336.3(SCNN1B):c.803A>G (p.His268Arg) rs138004955 0.00029
NM_000336.3(SCNN1B):c.903A>G (p.Ile301Met) rs149667567 0.00021
NM_000336.3(SCNN1B):c.*94G>A rs72654359 0.00013
NM_000336.3(SCNN1B):c.467G>A (p.Arg156Gln) rs765336896 0.00008
NM_000336.3(SCNN1B):c.1894G>A (p.Glu632Lys) rs140609339 0.00007
NM_000336.3(SCNN1B):c.1322T>C (p.Ile441Thr) rs770635298 0.00006
NM_000336.3(SCNN1B):c.1713C>T (p.Tyr571=) rs758251652 0.00004
NM_000336.3(SCNN1B):c.1732G>A (p.Val578Met) rs745885983 0.00004
NM_000336.3(SCNN1B):c.1904G>A (p.Ser635Asn) rs13306629 0.00004
NM_000336.3(SCNN1B):c.1404+7C>T rs1485041245 0.00003
NM_000336.3(SCNN1B):c.*187G>A rs886051816 0.00002
NM_000336.3(SCNN1B):c.1199A>G (p.Asn400Ser) rs768729700 0.00001
NM_000336.3(SCNN1B):c.159C>T (p.Phe53=) rs749106839 0.00001
NM_000336.3(SCNN1B):c.1760A>G (p.Asn587Ser) rs769244277 0.00001
NM_000336.3(SCNN1B):c.561C>T (p.His187=) rs773448523 0.00001
NM_000336.3(SCNN1B):c.753C>T (p.Phe251=) rs748167291 0.00001
NM_000336.3(SCNN1B):c.*446C>A rs1452320359
NM_000336.3(SCNN1B):c.1069C>A (p.Pro357Thr) rs932297365
NM_000336.3(SCNN1B):c.1228C>T (p.Arg410Cys) rs200401219
NM_000336.3(SCNN1B):c.1256A>T (p.Asp419Val) rs1962882235
NM_000336.3(SCNN1B):c.1271-10T>C rs886051814
NM_000336.3(SCNN1B):c.1336G>A (p.Glu446Lys) rs1962919047
NM_000336.3(SCNN1B):c.1404+15G>A rs886051815
NM_000336.3(SCNN1B):c.1745T>A (p.Val582Glu) rs1963026711
NM_000336.3(SCNN1B):c.530G>A (p.Ser177Asn) rs748962184
NM_000336.3(SCNN1B):c.748C>G (p.Leu250Val) rs1962399992
NM_000336.3(SCNN1B):c.776+9C>A rs1962401157

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