ClinVar Miner

List of variants reported as benign for autosomal recessive pseudohypoaldosteronism type 1 by Illumina Laboratory Services, Illumina

Included ClinVar conditions (4):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 41
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HGVS dbSNP gnomAD frequency
NM_001039.4(SCNN1G):c.1176+14A>G rs5740 0.75623
NM_001038.6(SCNN1A):c.1987A>G (p.Thr663Ala) rs2228576 0.75229
NM_000336.3(SCNN1B):c.279T>C (p.Pro93=) rs238547 0.66128
NM_001038.6(SCNN1A):c.-93A>G rs10849447 0.66126
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.*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.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_001038.6(SCNN1A):c.1000G>A (p.Ala334Thr) rs11542844 0.17402
NM_000336.3(SCNN1B):c.879C>T (p.Phe293=) rs250563 0.10382
NM_001039.4(SCNN1G):c.549C>T (p.Gly183=) rs5737 0.06659
NM_000336.3(SCNN1B):c.1325G>T (p.Gly442Val) rs1799980 0.03941
NM_001039.4(SCNN1G):c.*1369C>T rs72647549 0.03455
NM_001038.6(SCNN1A):c.-55+5G>C rs13306617 0.03104
NM_001038.6(SCNN1A):c.1853G>T (p.Cys618Phe) rs3741913 0.02955
NM_000336.3(SCNN1B):c.1467-14G>A rs34618783 0.02274
NM_001038.6(SCNN1A):c.540G>T (p.Leu180=) rs55859427 0.01886
NM_001039.4(SCNN1G):c.636C>T (p.Ser212=) rs5739 0.01794
NM_001038.6(SCNN1A):c.978C>T (p.Asn326=) rs61731141 0.01509
NM_001038.6(SCNN1A):c.99C>T (p.Pro33=) rs13306619 0.00986
NM_000336.3(SCNN1B):c.1162C>T (p.Arg388Cys) rs61729788 0.00962
NM_001039.4(SCNN1G):c.*1261G>A rs8043698 0.00958
NM_001038.6(SCNN1A):c.*70T>C rs72657538 0.00731
NM_001038.6(SCNN1A):c.-48A>G rs150809388 0.00712
NM_001038.6(SCNN1A):c.-28T>C rs61759919 0.00673
NM_001038.6(SCNN1A):c.684+9C>T rs111317117 0.00378
NM_001039.4(SCNN1G):c.1569+10G>A rs13306659 0.00344
NM_001039.4(SCNN1G):c.*106G>A rs550094178 0.00016
NM_001039.4(SCNN1G):c.*154G>T rs571729989 0.00016
NM_001038.6(SCNN1A):c.*1012TGTT[1] rs796798913

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