ClinVar Miner

List of variants in gene SCNN1G reported as benign for Pseudohypoaldosteronism, type IB1, autosomal recessive

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Gene type:
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Total variants: 28
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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.*789T>C rs9923016 0.41470
NM_001039.4(SCNN1G):c.*659T>C rs9922851 0.41133
NM_001039.4(SCNN1G):c.387T>C (p.Tyr129=) rs5734 0.27238
NM_001039.4(SCNN1G):c.474T>C (p.Ile158=) rs5735 0.27157
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.1947C>G (p.Leu649=) rs5723 0.21902
NM_001039.4(SCNN1G):c.*790C>T rs9932505 0.21456
NM_001039.4(SCNN1G):c.*268G>A rs5727 0.21182
NM_001039.4(SCNN1G):c.1494-49A>G rs11643517 0.21174
NM_001039.4(SCNN1G):c.*159T>G rs3026 0.21170
NM_001039.4(SCNN1G):c.1432-7G>A rs13306653 0.21170
NM_001039.4(SCNN1G):c.-31A>G rs5732 0.20649
NM_001039.4(SCNN1G):c.-44-4C>G rs5731 0.20385
NM_001039.4(SCNN1G):c.549C>T (p.Gly183=) rs5737 0.06537
NM_001039.4(SCNN1G):c.*1369C>T rs72647549 0.03455
NM_001039.4(SCNN1G):c.636C>T (p.Ser212=) rs5739 0.01751
NM_001039.4(SCNN1G):c.547G>A (p.Gly183Ser) rs5736 0.01206
NM_001039.4(SCNN1G):c.*1261G>A rs8043698 0.00958
NM_001039.4(SCNN1G):c.589G>A (p.Glu197Lys) rs5738 0.00548
NM_001039.4(SCNN1G):c.*154G>T rs571729989 0.00376
NM_001039.4(SCNN1G):c.*106G>A rs550094178 0.00361
NM_001039.4(SCNN1G):c.1569+10G>A rs13306659 0.00344
NM_001039.4(SCNN1G):c.1373+29T>C rs12708649

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