ClinVar Miner

List of variants studied 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: 148
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HGVS dbSNP
NM_000336.2(SCNN1B):c.-150C>G rs530631658
NM_000336.3(SCNN1B):c.*187G>A rs886051816
NM_000336.3(SCNN1B):c.*20G>A rs755277136
NM_000336.3(SCNN1B):c.*278C>T rs549628659
NM_000336.3(SCNN1B):c.*94G>A rs72654359
NM_000336.3(SCNN1B):c.109G>A (p.Gly37Ser) rs137852706
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+11G>T rs369905217
NM_000336.3(SCNN1B):c.1270+14C>T rs141909058
NM_000336.3(SCNN1B):c.1271-10T>C rs886051814
NM_000336.3(SCNN1B):c.1325G>T (p.Gly442Val) rs1799980
NM_000336.3(SCNN1B):c.1346+8C>T rs200714599
NM_000336.3(SCNN1B):c.1401C>T (p.Ser467=) rs74012901
NM_000336.3(SCNN1B):c.1404+15G>A rs886051815
NM_000336.3(SCNN1B):c.1419C>T (p.His473=) rs193211556
NM_000336.3(SCNN1B):c.1467-14G>A rs34618783
NM_000336.3(SCNN1B):c.1514G>A (p.Arg505His) rs138784278
NM_000336.3(SCNN1B):c.1545C>T (p.Ile515=) rs61759916
NM_000336.3(SCNN1B):c.159C>T (p.Phe53=) rs749106839
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.1713C>T (p.Tyr571=) rs758251652
NM_000336.3(SCNN1B):c.1764T>C (p.Phe588=) rs762486495
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.1900G>C (p.Asp634His) rs776613953
NM_000336.3(SCNN1B):c.246C>T (p.Ser82=) rs757137077
NM_000336.3(SCNN1B):c.279T>C (p.Pro93=) rs238547
NM_000336.3(SCNN1B):c.282C>T (p.Ala94=) rs139950628
NM_000336.3(SCNN1B):c.428C>T (p.Ser143Phe) rs199810483
NM_000336.3(SCNN1B):c.466C>T (p.Arg156Trp) rs139310448
NM_000336.3(SCNN1B):c.561C>T (p.His187=) rs773448523
NM_000336.3(SCNN1B):c.586-15T>C rs371098444
NM_000336.3(SCNN1B):c.753C>T (p.Phe251=) rs748167291
NM_000336.3(SCNN1B):c.777-5T>C rs61759915
NM_000336.3(SCNN1B):c.879C>T (p.Phe293=) rs250563
NM_001038.6(SCNN1A):c.*1012_*1015TGTT[1] rs796798913
NM_001038.6(SCNN1A):c.*113C>T rs62620999
NM_001038.6(SCNN1A):c.*114G>A rs886049756
NM_001038.6(SCNN1A):c.*296C>T rs55981728
NM_001038.6(SCNN1A):c.*415C>T rs886049755
NM_001038.6(SCNN1A):c.*4G>A rs557017986
NM_001038.6(SCNN1A):c.*580A>C rs886049754
NM_001038.6(SCNN1A):c.*590C>G rs886049753
NM_001038.6(SCNN1A):c.*633G>T rs62618735
NM_001038.6(SCNN1A):c.*70T>C rs72657538
NM_001038.6(SCNN1A):c.*736T>G rs886049752
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.-55+2T>C
NM_001038.6(SCNN1A):c.-55+5G>C rs13306617
NM_001038.6(SCNN1A):c.-69C>T rs545108113
NM_001038.6(SCNN1A):c.-93A>G rs10849447
NM_001038.6(SCNN1A):c.1000G>A (p.Ala334Thr) rs11542844
NM_001038.6(SCNN1A):c.1048C>G (p.Arg350Gly) rs181065138
NM_001038.6(SCNN1A):c.1073A>G (p.Glu358Gly) rs569195112
NM_001038.6(SCNN1A):c.1177G>A (p.Asp393Asn) rs886049758
NM_001038.6(SCNN1A):c.1216C>A (p.Leu406Ile) rs149484264
NM_001038.6(SCNN1A):c.1241A>G (p.Gln414Arg) rs886049757
NM_001038.6(SCNN1A):c.1299C>T (p.Tyr433=) rs375712066
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.1766G>A (p.Arg589Gln) rs775290860
NM_001038.6(SCNN1A):c.1771C>T (p.Arg591Ter) rs771949339
NM_001038.6(SCNN1A):c.1853G>T (p.Cys618Phe) rs3741913
NM_001038.6(SCNN1A):c.1935C>T (p.Ala645=) rs370406973
NM_001038.6(SCNN1A):c.1987A>G (p.Thr663Ala) rs2228576
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.648G>A (p.Gln216=) rs780536807
NM_001038.6(SCNN1A):c.684+9C>T rs111317117
NM_001038.6(SCNN1A):c.746G>A (p.Arg249Lys) rs142409152
NM_001038.6(SCNN1A):c.74A>G (p.Lys25Arg) rs768767909
NM_001038.6(SCNN1A):c.826G>T (p.Gly276Cys) rs759933475
NM_001038.6(SCNN1A):c.840C>T (p.Phe280=) rs139335335
NM_001038.6(SCNN1A):c.876-13C>T rs201235216
NM_001038.6(SCNN1A):c.944A>G (p.Asn315Ser) rs886049759
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.*106G>A rs550094178
NM_001039.4(SCNN1G):c.*1147A>G rs80081880
NM_001039.4(SCNN1G):c.*1198A>T rs72647547
NM_001039.4(SCNN1G):c.*1261G>A rs8043698
NM_001039.4(SCNN1G):c.*1369C>T rs72647549
NM_001039.4(SCNN1G):c.*1370G>A rs72647550
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.*328G>A rs56153525
NM_001039.4(SCNN1G):c.*572A>G rs5728
NM_001039.4(SCNN1G):c.*584G>A rs886051802
NM_001039.4(SCNN1G):c.*597dup rs566227302
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.*789_*790delinsCT rs386789797
NM_001039.4(SCNN1G):c.*790C>T rs9932505
NM_001039.4(SCNN1G):c.*979T>C rs540231207
NM_001039.4(SCNN1G):c.-23G>A rs762522517
NM_001039.4(SCNN1G):c.-31A>G rs5732
NM_001039.4(SCNN1G):c.-44-4C>G rs5731
NM_001039.4(SCNN1G):c.1083G>A (p.Glu361=) rs752432261
NM_001039.4(SCNN1G):c.1176+14A>G rs5740
NM_001039.4(SCNN1G):c.1187A>G (p.His396Arg) rs202142122
NM_001039.4(SCNN1G):c.1378A>G (p.Lys460Glu) rs886051801
NM_001039.4(SCNN1G):c.1432-7G>A rs13306653
NM_001039.4(SCNN1G):c.1452C>A (p.Leu484=) rs72647527
NM_001039.4(SCNN1G):c.1569+10G>A rs13306659
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.1947C>G (p.Leu649=) rs5723
NM_001039.4(SCNN1G):c.387T>C (p.Tyr129=) rs5734
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.446G>C (p.Gly149Ala) rs754747376
NM_001039.4(SCNN1G):c.474T>C (p.Ile158=) rs5735
NM_001039.4(SCNN1G):c.477G>A (p.Pro159=) rs145602271
NM_001039.4(SCNN1G):c.538C>T (p.Arg180Trp) rs763601481
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.549C>T (p.Gly183=) rs5737
NM_001039.4(SCNN1G):c.589G>A (p.Glu197Lys) rs5738
NM_001039.4(SCNN1G):c.636C>T (p.Ser212=) rs5739
NM_001039.4(SCNN1G):c.663G>T (p.Ser221=) rs886051800
NM_001039.4(SCNN1G):c.776C>A (p.Thr259Asn) rs72646501
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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