ClinVar Miner

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

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Total variants: 32
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HGVS dbSNP gnomAD frequency
NM_001038.6(SCNN1A):c.*633G>T rs62618735 0.01803
NM_001038.6(SCNN1A):c.1477T>C (p.Trp493Arg) rs5742912 0.01653
NM_001038.5(SCNN1A):c.-155G>A rs72645137 0.01427
NM_001039.4(SCNN1G):c.547G>A (p.Gly183Ser) rs5736 0.01206
NM_001039.4(SCNN1G):c.435C>T (p.Ser145=) rs62639702 0.00695
NM_000336.3(SCNN1B):c.282C>T (p.Ala94=) rs139950628 0.00551
NM_001039.4(SCNN1G):c.589G>A (p.Glu197Lys) rs5738 0.00548
NM_000336.3(SCNN1B):c.245C>G (p.Ser82Cys) rs35731153 0.00463
NM_001039.4(SCNN1G):c.*1198A>T rs72647547 0.00364
NM_001038.6(SCNN1A):c.*920C>T rs72657532 0.00349
NM_001065.4(TNFRSF1A):c.-96C>T rs115164694 0.00312
NM_000336.3(SCNN1B):c.777-5T>C rs61759915 0.00311
NM_000336.3(SCNN1B):c.1401C>T (p.Ser467=) rs74012901 0.00290
NM_001038.5(SCNN1A):c.-186C>T rs72645139 0.00258
NM_000336.3(SCNN1B):c.1883T>A (p.Leu628Gln) rs72654356 0.00186
NM_000336.3(SCNN1B):c.1765G>A (p.Gly589Ser) rs61759926 0.00180
NM_001039.4(SCNN1G):c.1589A>G (p.Asn530Ser) rs148985177 0.00069
NM_000336.3(SCNN1B):c.1782G>A (p.Thr594=) rs13306628 0.00063
NM_001038.6(SCNN1A):c.*850C>T rs62627411 0.00051
NM_000336.2(SCNN1B):c.-150C>G rs530631658 0.00022
NM_001065.4(TNFRSF1A):c.-233C>T rs45537340 0.00022
NM_001038.5(SCNN1A):c.-156C>T rs72645138 0.00019
NM_001038.6(SCNN1A):c.*509T>G rs150966071 0.00019
NM_000336.3(SCNN1B):c.1257C>T (p.Asp419=) rs2303155 0.00016
NM_001038.6(SCNN1A):c.*4G>A rs557017986 0.00014
NM_000336.3(SCNN1B):c.*20G>A rs755277136 0.00010
NM_001039.4(SCNN1G):c.1827G>C (p.Leu609Phe) rs745715995 0.00008
NM_001038.6(SCNN1A):c.-69C>T rs545108113 0.00006
NM_001065.4(TNFRSF1A):c.-74G>A rs200084924 0.00003
NM_001038.6(SCNN1A):c.1717G>A (p.Val573Ile) rs59142484
NM_001038.6(SCNN1A):c.541C>T (p.Arg181Trp) rs55797039
NM_001039.4(SCNN1G):c.*597dup rs566227302

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