ClinVar Miner

List of variants reported as uncertain significance for Liddle syndrome by Illumina Laboratory Services, Illumina

Included ClinVar conditions (6):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 43
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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_001039.4(SCNN1G):c.*979T>C rs540231207 0.00036
NM_000336.3(SCNN1B):c.*94G>A rs72654359 0.00018
NM_000336.3(SCNN1B):c.467G>A (p.Arg156Gln) rs765336896 0.00008
NM_001039.4(SCNN1G):c.*591G>T rs538477185 0.00006
NM_001039.4(SCNN1G):c.*909C>T rs1003477910 0.00006
NM_001039.4(SCNN1G):c.539G>A (p.Arg180Gln) rs546893551 0.00006
NM_001039.4(SCNN1G):c.*99C>T rs1418745552 0.00005
NM_000336.3(SCNN1B):c.1713C>T (p.Tyr571=) rs758251652 0.00004
NM_000336.3(SCNN1B):c.1404+7C>T rs1485041245 0.00003
NM_000336.3(SCNN1B):c.*187G>A rs886051816 0.00002
NM_001039.4(SCNN1G):c.1841C>T (p.Ala614Val) rs1474666302 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.561C>T (p.His187=) rs773448523 0.00001
NM_000336.3(SCNN1B):c.753C>T (p.Phe251=) rs748167291 0.00001
NM_001039.4(SCNN1G):c.*393T>C rs943847843 0.00001
NM_001039.4(SCNN1G):c.1083G>A (p.Glu361=) rs752432261 0.00001
NM_001039.4(SCNN1G):c.1187A>G (p.His396Arg) rs202142122 0.00001
NM_001039.4(SCNN1G):c.1563C>T (p.Ala521=) rs767735046 0.00001
NM_001039.4(SCNN1G):c.446G>C (p.Gly149Ala) rs754747376 0.00001
NM_001039.4(SCNN1G):c.48C>T (p.Pro16=) rs1203780950 0.00001
NM_001039.4(SCNN1G):c.940G>A (p.Glu314Lys) rs147199706 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.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
NM_001039.4(SCNN1G):c.*1243C>T rs527408442
NM_001039.4(SCNN1G):c.*1273C>T rs1960163702
NM_001039.4(SCNN1G):c.*1287C>T rs927733196
NM_001039.4(SCNN1G):c.*584G>A rs886051802
NM_001039.4(SCNN1G):c.*789T>G rs9923016
NM_001039.4(SCNN1G):c.*789_*790delinsCT rs386789797
NM_001039.4(SCNN1G):c.1378A>G (p.Lys460Glu) rs886051801
NM_001039.4(SCNN1G):c.1724G>C (p.Trp575Ser) rs1960141342
NM_001039.4(SCNN1G):c.589G>C (p.Glu197Gln) rs5738
NM_001039.4(SCNN1G):c.663G>T (p.Ser221=) rs886051800

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