ClinVar Miner

List of variants reported as likely benign for autosomal recessive pseudohypoaldosteronism type 1

Included ClinVar conditions (2):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 72
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HGVS dbSNP
NM_000336.2(SCNN1B):c.-150C>G rs530631658
NM_000336.3(SCNN1B):c.*20G>A rs755277136
NM_000336.3(SCNN1B):c.*278C>T rs549628659
NM_000336.3(SCNN1B):c.1162C>T (p.Arg388Cys) rs61729788
NM_000336.3(SCNN1B):c.1221A>G (p.Pro407=) rs2303156
NM_000336.3(SCNN1B):c.1257C>T (p.Asp419=) rs2303155
NM_000336.3(SCNN1B):c.1270+14C>T rs141909058
NM_000336.3(SCNN1B):c.1346+8C>T rs200714599
NM_000336.3(SCNN1B):c.1401C>T (p.Ser467=) rs74012901
NM_000336.3(SCNN1B):c.1419C>T (p.His473=) rs193211556
NM_000336.3(SCNN1B):c.1545C>T (p.Ile515=) rs61759916
NM_000336.3(SCNN1B):c.1686A>G (p.Leu562=) rs541449814
NM_000336.3(SCNN1B):c.1706C>T (p.Ala569Val) rs140927806
NM_000336.3(SCNN1B):c.1765G>A (p.Gly589Ser) rs61759926
NM_000336.3(SCNN1B):c.1782G>A (p.Thr594=) rs13306628
NM_000336.3(SCNN1B):c.1883T>A (p.Leu628Gln) rs72654356
NM_000336.3(SCNN1B):c.1887C>T (p.Asp629=) rs61759917
NM_000336.3(SCNN1B):c.282C>T (p.Ala94=) rs139950628
NM_000336.3(SCNN1B):c.466C>T (p.Arg156Trp) rs139310448
NM_000336.3(SCNN1B):c.777-5T>C rs61759915
NM_001038.6(SCNN1A):c.*113C>T rs62620999
NM_001038.6(SCNN1A):c.*296C>T rs55981728
NM_001038.6(SCNN1A):c.*4G>A rs557017986
NM_001038.6(SCNN1A):c.*633G>T rs62618735
NM_001038.6(SCNN1A):c.*70T>C rs72657538
NM_001038.6(SCNN1A):c.*850C>T rs62627411
NM_001038.6(SCNN1A):c.*914A>G rs62619209
NM_001038.6(SCNN1A):c.*920C>T rs72657532
NM_001038.6(SCNN1A):c.-28T>C rs61759919
NM_001038.6(SCNN1A):c.-48A>G rs150809388
NM_001038.6(SCNN1A):c.-54-14C>T rs61758858
NM_001038.6(SCNN1A):c.-69C>T rs545108113
NM_001038.6(SCNN1A):c.1073A>G (p.Glu358Gly) rs569195112
NM_001038.6(SCNN1A):c.1477T>C (p.Trp493Arg) rs5742912
NM_001038.6(SCNN1A):c.1484C>T (p.Ser495Leu) rs148749888
NM_001038.6(SCNN1A):c.1485G>T (p.Ser495=) rs3764873
NM_001038.6(SCNN1A):c.1497+6G>C rs144275086
NM_001038.6(SCNN1A):c.1554-6C>T rs376456435
NM_001038.6(SCNN1A):c.1559G>C (p.Gly520Ala) rs72657550
NM_001038.6(SCNN1A):c.1686G>A (p.Ser562=) rs199526819
NM_001038.6(SCNN1A):c.1935C>T (p.Ala645=) rs370406973
NM_001038.6(SCNN1A):c.319G>A (p.Gly107Arg) rs144763378
NM_001038.6(SCNN1A):c.540G>T (p.Leu180=) rs55859427
NM_001038.6(SCNN1A):c.541C>T (p.Arg181Trp) rs55797039
NM_001038.6(SCNN1A):c.684+9C>T rs111317117
NM_001038.6(SCNN1A):c.876-13C>T rs201235216
NM_001038.6(SCNN1A):c.978C>T (p.Asn326=) rs61731141
NM_001038.6(SCNN1A):c.99C>T (p.Pro33=) rs13306619
NM_001039.4(SCNN1G):c.*1198A>T rs72647547
NM_001039.4(SCNN1G):c.*1261G>A rs8043698
NM_001039.4(SCNN1G):c.*1370G>A rs72647550
NM_001039.4(SCNN1G):c.*328G>A rs56153525
NM_001039.4(SCNN1G):c.*597dup rs566227302
NM_001039.4(SCNN1G):c.*979T>C rs540231207
NM_001039.4(SCNN1G):c.-23G>A rs762522517
NM_001039.4(SCNN1G):c.1452C>A (p.Leu484=) rs72647527
NM_001039.4(SCNN1G):c.1575G>A (p.Glu525=) rs72647541
NM_001039.4(SCNN1G):c.1589A>G (p.Asn530Ser) rs148985177
NM_001039.4(SCNN1G):c.1827G>C (p.Leu609Phe) rs745715995
NM_001039.4(SCNN1G):c.399G>A (p.Glu133=) rs200985912
NM_001039.4(SCNN1G):c.435C>T (p.Ser145=) rs62639702
NM_001039.4(SCNN1G):c.477G>A (p.Pro159=) rs145602271
NM_001039.4(SCNN1G):c.539G>A (p.Arg180Gln) rs546893551
NM_001039.4(SCNN1G):c.547G>A (p.Gly183Ser) rs5736
NM_001039.4(SCNN1G):c.589G>A (p.Glu197Lys) rs5738
NM_001039.4(SCNN1G):c.636C>T (p.Ser212=) rs5739
NM_001065.3(TNFRSF1A):c.-233C>T rs45537340
NM_001065.3(TNFRSF1A):c.-74G>A rs200084924
NM_001065.3(TNFRSF1A):c.-96C>T rs115164694
NM_001270987.2(LTBR):c.39+11C>T rs72645137
NM_001270987.2(LTBR):c.39+12G>A rs72645138
NM_001270987.2(LTBR):c.39+42G>A rs72645139

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