ClinVar Miner

List of variants in gene SCNN1G reported as benign for Liddle syndrome

Included ClinVar conditions (6):
Minimum submission review status: Collection method:
Minimum conflict level:
Gene type:
ClinVar version:
Total variants: 40
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HGVS dbSNP gnomAD frequency
NM_001039.4(SCNN1G):c.1176+14A>G rs5740 0.75623
NM_001039.4(SCNN1G):c.*572A>G rs5728 0.41693
NM_001039.4(SCNN1G):c.*659T>C rs9922851 0.41685
NM_001039.4(SCNN1G):c.*789T>C rs9923016 0.41470
NM_001039.4(SCNN1G):c.474T>C (p.Ile158=) rs5735 0.27157
NM_001039.4(SCNN1G):c.387T>C (p.Tyr129=) rs5734 0.27146
NM_001039.4(SCNN1G):c.*675A>G rs5730 0.22311
NM_001039.4(SCNN1G):c.1493+33T>G rs13306654 0.21983
NM_001039.4(SCNN1G):c.*606T>A rs5729 0.21907
NM_001039.4(SCNN1G):c.*236C>T rs5726 0.21904
NM_001039.4(SCNN1G):c.*268G>A rs5727 0.21902
NM_001039.4(SCNN1G):c.1947C>G (p.Leu649=) rs5723 0.21902
NM_001039.4(SCNN1G):c.1494-49A>G rs11643517 0.21899
NM_001039.4(SCNN1G):c.1432-7G>A rs13306653 0.21894
NM_001039.4(SCNN1G):c.*159T>G rs3026 0.21892
NM_001039.4(SCNN1G):c.*790C>T rs9932505 0.21456
NM_001039.4(SCNN1G):c.-31A>G rs5732 0.20459
NM_001039.4(SCNN1G):c.-44-4C>G rs5731 0.20385
NM_001039.4(SCNN1G):c.549C>T (p.Gly183=) rs5737 0.06659
NM_001039.4(SCNN1G):c.*1369C>T rs72647549 0.03455
NM_001039.4(SCNN1G):c.636C>T (p.Ser212=) rs5739 0.01794
NM_001039.4(SCNN1G):c.*1261G>A rs8043698 0.00958
NM_001039.4(SCNN1G):c.435C>T (p.Ser145=) rs62639702 0.00695
NM_001039.4(SCNN1G):c.*1198A>T rs72647547 0.00364
NM_001039.4(SCNN1G):c.1569+10G>A rs13306659 0.00344
NM_001039.4(SCNN1G):c.*328G>A rs56153525 0.00197
NM_001039.4(SCNN1G):c.1575G>A (p.Glu525=) rs72647541 0.00082
NM_001039.4(SCNN1G):c.1452C>A (p.Leu484=) rs72647527 0.00080
NM_001039.4(SCNN1G):c.*1370G>A rs72647550 0.00048
NM_001039.4(SCNN1G):c.776C>A (p.Thr259Asn) rs72646501 0.00044
NM_001039.4(SCNN1G):c.1476A>G (p.Val492=) rs146420892 0.00043
NM_001039.4(SCNN1G):c.*230C>T rs72647546 0.00036
NM_001039.4(SCNN1G):c.*491G>A rs146413363 0.00020
NM_001039.4(SCNN1G):c.*106G>A rs550094178 0.00016
NM_001039.4(SCNN1G):c.*154G>T rs571729989 0.00016
NM_001039.4(SCNN1G):c.477G>A (p.Pro159=) rs145602271 0.00015
NM_001039.4(SCNN1G):c.*1147A>G rs80081880 0.00009
NM_001039.4(SCNN1G):c.1861G>A (p.Gly621Ser) rs139012605 0.00006
NM_001039.4(SCNN1G):c.-23G>A rs762522517 0.00001
NM_001039.4(SCNN1G):c.1373+29T>C rs12708649

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