ClinVar Miner

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

Included ClinVar conditions (2):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 31
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HGVS dbSNP
NM_000336.3(SCNN1B):c.1325G>T (p.Gly442Val) rs1799980
NM_000336.3(SCNN1B):c.1467-14G>A rs34618783
NM_000336.3(SCNN1B):c.279T>C (p.Pro93=) rs238547
NM_000336.3(SCNN1B):c.879C>T (p.Phe293=) rs250563
NM_001038.6(SCNN1A):c.*1012_*1015TGTT[1] rs796798913
NM_001038.6(SCNN1A):c.-55+5G>C rs13306617
NM_001038.6(SCNN1A):c.-93A>G rs10849447
NM_001038.6(SCNN1A):c.1000G>A (p.Ala334Thr) rs11542844
NM_001038.6(SCNN1A):c.1853G>T (p.Cys618Phe) rs3741913
NM_001038.6(SCNN1A):c.1987A>G (p.Thr663Ala) rs2228576
NM_001039.4(SCNN1G):c.*106G>A rs550094178
NM_001039.4(SCNN1G):c.*1369C>T rs72647549
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.*572A>G rs5728
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.*790C>T rs9932505
NM_001039.4(SCNN1G):c.-31A>G rs5732
NM_001039.4(SCNN1G):c.-44-4C>G rs5731
NM_001039.4(SCNN1G):c.1176+14A>G rs5740
NM_001039.4(SCNN1G):c.1432-7G>A rs13306653
NM_001039.4(SCNN1G):c.1569+10G>A rs13306659
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.474T>C (p.Ile158=) rs5735
NM_001039.4(SCNN1G):c.549C>T (p.Gly183=) rs5737

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