ClinVar Miner

List of variants in gene SCNN1G studied for Liddle syndrome

Included ClinVar conditions (4):
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Gene type:
ClinVar version:
Total variants: 54
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HGVS dbSNP
NM_001039.4(SCNN1G):c.*106G>A rs550094178
NM_001039.4(SCNN1G):c.*1147A>G rs80081880
NM_001039.4(SCNN1G):c.*1198A>T rs72647547
NM_001039.4(SCNN1G):c.*1261G>A rs8043698
NM_001039.4(SCNN1G):c.*1369C>T rs72647549
NM_001039.4(SCNN1G):c.*1370G>A rs72647550
NM_001039.4(SCNN1G):c.*154G>T rs571729989
NM_001039.4(SCNN1G):c.*159T>G rs3026
NM_001039.4(SCNN1G):c.*236C>T rs5726
NM_001039.4(SCNN1G):c.*268G>A rs5727
NM_001039.4(SCNN1G):c.*328G>A rs56153525
NM_001039.4(SCNN1G):c.*572A>G rs5728
NM_001039.4(SCNN1G):c.*584G>A rs886051802
NM_001039.4(SCNN1G):c.*597dup rs566227302
NM_001039.4(SCNN1G):c.*606T>A rs5729
NM_001039.4(SCNN1G):c.*659T>C rs9922851
NM_001039.4(SCNN1G):c.*675A>G rs5730
NM_001039.4(SCNN1G):c.*789T>C rs9923016
NM_001039.4(SCNN1G):c.*789_*790delinsCT rs386789797
NM_001039.4(SCNN1G):c.*790C>T rs9932505
NM_001039.4(SCNN1G):c.*979T>C rs540231207
NM_001039.4(SCNN1G):c.-23G>A rs762522517
NM_001039.4(SCNN1G):c.-31A>G rs5732
NM_001039.4(SCNN1G):c.-44-4C>G rs5731
NM_001039.4(SCNN1G):c.1083G>A (p.Glu361=) rs752432261
NM_001039.4(SCNN1G):c.1176+14A>G rs5740
NM_001039.4(SCNN1G):c.1187A>G (p.His396Arg) rs202142122
NM_001039.4(SCNN1G):c.1378A>G (p.Lys460Glu) rs886051801
NM_001039.4(SCNN1G):c.1432-7G>A rs13306653
NM_001039.4(SCNN1G):c.1452C>A (p.Leu484=) rs72647527
NM_001039.4(SCNN1G):c.1550T>C (p.Met517Thr) rs144653364
NM_001039.4(SCNN1G):c.1569+10G>A rs13306659
NM_001039.4(SCNN1G):c.1575G>A (p.Glu525=) rs72647541
NM_001039.4(SCNN1G):c.1589A>G (p.Asn530Ser) rs148985177
NM_001039.4(SCNN1G):c.1718G>A (p.Trp573Ter) rs137853342
NM_001039.4(SCNN1G):c.1749_1753del (p.Glu583fs) rs1567270184
NM_001039.4(SCNN1G):c.1827G>C (p.Leu609Phe) rs745715995
NM_001039.4(SCNN1G):c.1947C>G (p.Leu649=) rs5723
NM_001039.4(SCNN1G):c.387T>C (p.Tyr129=) rs5734
NM_001039.4(SCNN1G):c.399G>A (p.Glu133=) rs200985912
NM_001039.4(SCNN1G):c.435C>T (p.Ser145=) rs62639702
NM_001039.4(SCNN1G):c.446G>C (p.Gly149Ala) rs754747376
NM_001039.4(SCNN1G):c.474T>C (p.Ile158=) rs5735
NM_001039.4(SCNN1G):c.477G>A (p.Pro159=) rs145602271
NM_001039.4(SCNN1G):c.538C>T (p.Arg180Trp) rs763601481
NM_001039.4(SCNN1G):c.539G>A (p.Arg180Gln) rs546893551
NM_001039.4(SCNN1G):c.547G>A (p.Gly183Ser) rs5736
NM_001039.4(SCNN1G):c.549C>T (p.Gly183=) rs5737
NM_001039.4(SCNN1G):c.589G>A (p.Glu197Lys) rs5738
NM_001039.4(SCNN1G):c.636C>T (p.Ser212=) rs5739
NM_001039.4(SCNN1G):c.663G>T (p.Ser221=) rs886051800
NM_001039.4(SCNN1G):c.776C>A (p.Thr259Asn) rs72646501
SCNN1G, ASN530SER
SCNN1G, GLN567TER

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