ClinVar Miner

List of variants in gene WNK1 studied for Hereditary sensory and autonomic neuropathy type IIA; Pseudohypoaldosteronism type 2C

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Gene type:
ClinVar version:
Total variants: 237
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HGVS dbSNP
NC_000012.11:g.(?_862712)_(1017978_?)dup
NC_000012.11:g.(?_862712)_(980534_?)dup
NC_000012.11:g.(?_862712)_(987547_?)dup
NM_018979.4(WNK1):c.1074C>T (p.Thr358=) rs72648621
NM_018979.4(WNK1):c.108G>C (p.Gly36=) rs375485682
NM_018979.4(WNK1):c.11_12delinsTT (p.Gly4Val)
NM_018979.4(WNK1):c.1232G>A (p.Cys411Tyr)
NM_018979.4(WNK1):c.1269G>A (p.Ser423=) rs955095527
NM_018979.4(WNK1):c.1277A>G (p.Gln426Arg) rs1565489044
NM_018979.4(WNK1):c.128C>G (p.Ala43Gly)
NM_018979.4(WNK1):c.1401-7T>C rs764009301
NM_018979.4(WNK1):c.1512A>G (p.Leu504=) rs56325964
NM_018979.4(WNK1):c.1526T>C (p.Ile509Thr) rs34728563
NM_018979.4(WNK1):c.1536A>G (p.Leu512=) rs1555131208
NM_018979.4(WNK1):c.1621-3T>C
NM_018979.4(WNK1):c.1669G>A (p.Ala557Thr) rs1565534337
NM_018979.4(WNK1):c.1689A>G (p.Ser563=) rs1555132915
NM_018979.4(WNK1):c.1769A>G (p.Lys590Arg) rs780986326
NM_018979.4(WNK1):c.1787C>T (p.Ser596Phe)
NM_018979.4(WNK1):c.1790G>A (p.Ser597Asn) rs757732497
NM_018979.4(WNK1):c.1823C>G (p.Ser608Cys) rs1455320237
NM_018979.4(WNK1):c.1834G>A (p.Gly612Ser) rs146450828
NM_018979.4(WNK1):c.1855A>G (p.Thr619Ala) rs149388376
NM_018979.4(WNK1):c.1881A>T (p.Val627=) rs748687867
NM_018979.4(WNK1):c.1899G>A (p.Glu633=) rs1555133438
NM_018979.4(WNK1):c.192C>T (p.Asp64=) rs756914631
NM_018979.4(WNK1):c.2003G>C (p.Arg668Pro)
NM_018979.4(WNK1):c.2020A>G (p.Thr674Ala) rs11833299
NM_018979.4(WNK1):c.2021C>T (p.Thr674Ile) rs1249953042
NM_018979.4(WNK1):c.2052A>G (p.Ala684=) rs72648690
NM_018979.4(WNK1):c.2081T>C (p.Ile694Thr) rs61736905
NM_018979.4(WNK1):c.2092G>A (p.Val698Ile) rs764336343
NM_018979.4(WNK1):c.2092G>C (p.Val698Leu) rs764336343
NM_018979.4(WNK1):c.2105C>A (p.Ser702Tyr) rs772771448
NM_018979.4(WNK1):c.210G>A (p.Ala70=) rs145076179
NM_018979.4(WNK1):c.2134A>G (p.Ser712Gly) rs1393034802
NM_018979.4(WNK1):c.2139+2830_2139+2836del
NM_018979.4(WNK1):c.2140-2423G>A rs201042606
NM_018979.4(WNK1):c.2140-2568C>T rs111033591
NM_018979.4(WNK1):c.214A>G (p.Thr72Ala) rs1483871160
NM_018979.4(WNK1):c.217A>G (p.Thr73Ala) rs1038270127
NM_018979.4(WNK1):c.2188G>A (p.Val730Ile) rs1290299901
NM_018979.4(WNK1):c.2206A>G (p.Ile736Val) rs147099510
NM_018979.4(WNK1):c.2266C>G (p.Gln756Glu)
NM_018979.4(WNK1):c.2275_2282dup (p.Gln761fs)
NM_018979.4(WNK1):c.2290A>G (p.Thr764Ala) rs143890340
NM_018979.4(WNK1):c.2320G>A (p.Val774Met) rs144292256
NM_018979.4(WNK1):c.2336C>T (p.Ala779Val) rs141428612
NM_018979.4(WNK1):c.2374-181C>T rs880054
NM_018979.4(WNK1):c.2401A>G (p.Ile801Val) rs139449198
NM_018979.4(WNK1):c.2441C>T (p.Ser814Leu) rs199930107
NM_018979.4(WNK1):c.2468A>G (p.His823Arg) rs56015776
NM_018979.4(WNK1):c.2489C>T (p.Pro830Leu) rs575889688
NM_018979.4(WNK1):c.2490G>A (p.Pro830=) rs79816263
NM_018979.4(WNK1):c.2558C>T (p.Thr853Met) rs766223909
NM_018979.4(WNK1):c.2567C>A (p.Thr856Lys)
NM_018979.4(WNK1):c.2642C>T (p.Thr881Ile) rs183506727
NM_018979.4(WNK1):c.2652G>A (p.Ala884=) rs142528714
NM_018979.4(WNK1):c.2656C>G (p.Pro886Ala)
NM_018979.4(WNK1):c.2664A>G (p.Val888=) rs769020140
NM_018979.4(WNK1):c.2684A>G (p.Gln895Arg) rs200100184
NM_018979.4(WNK1):c.2825T>C (p.Leu942Pro)
NM_018979.4(WNK1):c.2895C>T (p.Asn965=) rs138446333
NM_018979.4(WNK1):c.2899G>A (p.Ala967Thr) rs1555146635
NM_018979.4(WNK1):c.2942C>T (p.Pro981Leu)
NM_018979.4(WNK1):c.2947G>C (p.Glu983Gln) rs1185591309
NM_018979.4(WNK1):c.3029T>C (p.Val1010Ala) rs769099133
NM_018979.4(WNK1):c.3068T>C (p.Leu1023Ser) rs766021155
NM_018979.4(WNK1):c.3081C>T (p.Pro1027=) rs150212942
NM_018979.4(WNK1):c.3112-10C>T rs72650715
NM_018979.4(WNK1):c.3133G>T (p.Val1045Phe) rs1565573971
NM_018979.4(WNK1):c.314C>G (p.Pro105Arg) rs142165599
NM_018979.4(WNK1):c.3151G>A (p.Val1051Ile)
NM_018979.4(WNK1):c.3188C>T (p.Thr1063Ile) rs201379287
NM_018979.4(WNK1):c.3199T>C (p.Ser1067Pro)
NM_018979.4(WNK1):c.3209G>C (p.Ser1070Thr) rs760251215
NM_018979.4(WNK1):c.3314C>G (p.Ser1105Cys) rs767286874
NM_018979.4(WNK1):c.3326G>A (p.Arg1109His) rs750478389
NM_018979.4(WNK1):c.3331C>T (p.Arg1111Ter)
NM_018979.4(WNK1):c.3387A>C (p.Gly1129=) rs1555148183
NM_018979.4(WNK1):c.3490-4A>G rs143557702
NM_018979.4(WNK1):c.3490-5T>A rs72650719
NM_018979.4(WNK1):c.3516A>G (p.Ile1172Met) rs150532648
NM_018979.4(WNK1):c.3573G>C (p.Met1191Ile) rs1555148491
NM_018979.4(WNK1):c.3578G>A (p.Ser1193Asn) rs72650720
NM_018979.4(WNK1):c.3585T>A (p.Asp1195Glu)
NM_018979.4(WNK1):c.3590G>T (p.Ser1197Ile)
NM_018979.4(WNK1):c.3592G>A (p.Val1198Met) rs1478319114
NM_018979.4(WNK1):c.3597A>G (p.Glu1199=) rs777111973
NM_018979.4(WNK1):c.3614G>A (p.Gly1205Glu)
NM_018979.4(WNK1):c.3623G>T (p.Ser1208Ile) rs972194980
NM_018979.4(WNK1):c.3644A>G (p.Tyr1215Cys)
NM_018979.4(WNK1):c.3654A>G (p.Ser1218=) rs141971833
NM_018979.4(WNK1):c.3659C>T (p.Ser1220Phe)
NM_018979.4(WNK1):c.3699G>A (p.Ala1233=) rs147752204
NM_018979.4(WNK1):c.3859G>T (p.Ala1287Ser) rs149186881
NM_018979.4(WNK1):c.385G>T (p.Ala129Ser) rs752345591
NM_018979.4(WNK1):c.3883T>C (p.Ser1295Pro) rs1555149377
NM_018979.4(WNK1):c.3884C>G (p.Ser1295Cys)
NM_018979.4(WNK1):c.3932G>T (p.Arg1311Ile) rs773117623
NM_018979.4(WNK1):c.3934C>T (p.Arg1312Cys)
NM_018979.4(WNK1):c.3935G>A (p.Arg1312His)
NM_018979.4(WNK1):c.3948A>C (p.Thr1316=) rs1201537831
NM_018979.4(WNK1):c.3991C>A (p.Pro1331Thr)
NM_018979.4(WNK1):c.3991C>T (p.Pro1331Ser)
NM_018979.4(WNK1):c.4043C>T (p.Thr1348Ile) rs746601991
NM_018979.4(WNK1):c.4055C>T (p.Ala1352Val) rs1565581215
NM_018979.4(WNK1):c.4058C>T (p.Thr1353Ile) rs1182500229
NM_018979.4(WNK1):c.4088C>G (p.Pro1363Arg)
NM_018979.4(WNK1):c.4108G>A (p.Val1370Ile) rs1565581431
NM_018979.4(WNK1):c.4135A>G (p.Thr1379Ala)
NM_018979.4(WNK1):c.413C>T (p.Pro138Leu) rs1277355342
NM_018979.4(WNK1):c.418G>A (p.Ala140Thr)
NM_018979.4(WNK1):c.4231A>T (p.Ser1411Cys) rs761892301
NM_018979.4(WNK1):c.4287G>A (p.Pro1429=) rs1420978472
NM_018979.4(WNK1):c.4320C>T (p.Ile1440=) rs72650730
NM_018979.4(WNK1):c.4321G>A (p.Val1441Ile)
NM_018979.4(WNK1):c.4328C>G (p.Ser1443Cys)
NM_018979.4(WNK1):c.4336G>A (p.Ala1446Thr) rs376176091
NM_018979.4(WNK1):c.4354A>G (p.Thr1452Ala) rs142543401
NM_018979.4(WNK1):c.4364C>T (p.Ala1455Val)
NM_018979.4(WNK1):c.4384G>A (p.Gly1462Ser)
NM_018979.4(WNK1):c.4388G>A (p.Ser1463Asn) rs757201529
NM_018979.4(WNK1):c.446C>T (p.Ala149Val) rs34880640
NM_018979.4(WNK1):c.4474G>A (p.Val1492Ile) rs774954731
NM_018979.4(WNK1):c.4484C>G (p.Thr1495Ser) rs760474824
NM_018979.4(WNK1):c.4487C>G (p.Thr1496Ser)
NM_018979.4(WNK1):c.4547C>A (p.Pro1516His) rs1454330405
NM_018979.4(WNK1):c.4563C>T (p.Thr1521=) rs749432947
NM_018979.4(WNK1):c.4564G>A (p.Val1522Met) rs146861951
NM_018979.4(WNK1):c.4605_4607del (p.Ser1536del) rs567183841
NM_018979.4(WNK1):c.4609A>G (p.Thr1537Ala)
NM_018979.4(WNK1):c.4635T>C (p.Ser1545=) rs1194260196
NM_018979.4(WNK1):c.4693G>A (p.Gly1565Ser)
NM_018979.4(WNK1):c.4703A>C (p.His1568Pro)
NM_018979.4(WNK1):c.4739C>T (p.Pro1580Leu)
NM_018979.4(WNK1):c.4792C>T (p.Pro1598Ser) rs1565584248
NM_018979.4(WNK1):c.4798A>G (p.Ile1600Val)
NM_018979.4(WNK1):c.4816C>G (p.Pro1606Ala)
NM_018979.4(WNK1):c.4823C>T (p.Ala1608Val)
NM_018979.4(WNK1):c.4832C>G (p.Pro1611Arg)
NM_018979.4(WNK1):c.4856A>T (p.His1619Leu)
NM_018979.4(WNK1):c.4925C>T (p.Thr1642Ile) rs1555150817
NM_018979.4(WNK1):c.4939C>G (p.Pro1647Ala)
NM_018979.4(WNK1):c.4983T>C (p.Ser1661=) rs149852592
NM_018979.4(WNK1):c.511C>T (p.Leu171Phe)
NM_018979.4(WNK1):c.5144A>G (p.Asn1715Ser) rs756614581
NM_018979.4(WNK1):c.515_517del (p.Val172del) rs1347086453
NM_018979.4(WNK1):c.5177C>T (p.Thr1726Ile)
NM_018979.4(WNK1):c.5189C>T (p.Thr1730Ile) rs375562377
NM_018979.4(WNK1):c.5221A>G (p.Thr1741Ala)
NM_018979.4(WNK1):c.5258A>G (p.Lys1753Arg) rs752078094
NM_018979.4(WNK1):c.5281-4G>A rs72650740
NM_018979.4(WNK1):c.5284C>T (p.Leu1762=) rs72650741
NM_018979.4(WNK1):c.5290G>T (p.Val1764Leu) rs201521760
NM_018979.4(WNK1):c.5314A>C (p.Thr1772Pro) rs1183977237
NM_018979.4(WNK1):c.5397A>G (p.Gln1799=) rs148639270
NM_018979.4(WNK1):c.5418A>G (p.Pro1806=) rs56245971
NM_018979.4(WNK1):c.5468C>T (p.Pro1823Leu) rs17755373
NM_018979.4(WNK1):c.5481A>G (p.Thr1827=) rs61736908
NM_018979.4(WNK1):c.5492C>G (p.Thr1831Arg) rs373765496
NM_018979.4(WNK1):c.5496G>A (p.Gln1832=) rs138219481
NM_018979.4(WNK1):c.5496G>T (p.Gln1832His)
NM_018979.4(WNK1):c.5522_5524AAG[1] (p.Glu1842del) rs1565600344
NM_018979.4(WNK1):c.5530C>T (p.Pro1844Ser) rs769345308
NM_018979.4(WNK1):c.5542_5550del (p.Thr1848_Ser1850del) rs544395150
NM_018979.4(WNK1):c.564C>T (p.Gly188=) rs72647371
NM_018979.4(WNK1):c.568G>A (p.Ala190Thr)
NM_018979.4(WNK1):c.5714T>A (p.Val1905Glu)
NM_018979.4(WNK1):c.5720C>T (p.Pro1907Leu) rs200979623
NM_018979.4(WNK1):c.5741T>C (p.Ile1914Thr)
NM_018979.4(WNK1):c.5768A>T (p.Glu1923Val) rs1269384433
NM_018979.4(WNK1):c.578C>A (p.Pro193Gln) rs72647372
NM_018979.4(WNK1):c.5849C>T (p.Thr1950Ile) rs1555157875
NM_018979.4(WNK1):c.5851A>G (p.Thr1951Ala)
NM_018979.4(WNK1):c.5869C>T (p.Arg1957Cys) rs201766777
NM_018979.4(WNK1):c.5943T>G (p.Phe1981Leu) rs72650765
NM_018979.4(WNK1):c.595C>G (p.Gln199Glu) rs1404174344
NM_018979.4(WNK1):c.5971G>T (p.Ala1991Ser)
NM_018979.4(WNK1):c.5991G>A (p.Glu1997=) rs61736907
NM_018979.4(WNK1):c.5995C>T (p.Pro1999Ser)
NM_018979.4(WNK1):c.5998G>C (p.Glu2000Gln)
NM_018979.4(WNK1):c.6036T>G (p.Ser2012=) rs750142502
NM_018979.4(WNK1):c.6059G>A (p.Ser2020Asn) rs1555158125
NM_018979.4(WNK1):c.6062G>A (p.Arg2021Lys) rs1565604539
NM_018979.4(WNK1):c.6092A>G (p.His2031Arg)
NM_018979.4(WNK1):c.6123T>A (p.Leu2041=) rs189148252
NM_018979.4(WNK1):c.6135T>C (p.Asn2045=) rs1555158255
NM_018979.4(WNK1):c.6150T>C (p.Leu2050=) rs151331381
NM_018979.4(WNK1):c.6152G>A (p.Ser2051Asn)
NM_018979.4(WNK1):c.6152G>T (p.Ser2051Ile) rs561238194
NM_018979.4(WNK1):c.6278G>A (p.Arg2093His) rs200315094
NM_018979.4(WNK1):c.6310A>G (p.Lys2104Glu)
NM_018979.4(WNK1):c.6315G>C (p.Leu2105=) rs376551765
NM_018979.4(WNK1):c.6374G>A (p.Arg2125Gln) rs757825668
NM_018979.4(WNK1):c.6472G>A (p.Ala2158Thr)
NM_018979.4(WNK1):c.6503A>T (p.His2168Leu) rs1555160733
NM_018979.4(WNK1):c.65C>T (p.Ala22Val) rs1245390063
NM_018979.4(WNK1):c.6616G>C (p.Val2206Leu)
NM_018979.4(WNK1):c.6624C>G (p.Ser2208Arg)
NM_018979.4(WNK1):c.6691G>A (p.Ala2231Thr)
NM_018979.4(WNK1):c.677A>T (p.Glu226Val) rs72647373
NM_018979.4(WNK1):c.6797G>T (p.Gly2266Val)
NM_018979.4(WNK1):c.6832-8G>A rs772178712
NM_018979.4(WNK1):c.6832G>C (p.Gly2278Arg)
NM_018979.4(WNK1):c.684C>T (p.Gly228=) rs72647374
NM_018979.4(WNK1):c.6895C>G (p.Leu2299Val)
NM_018979.4(WNK1):c.6930T>C (p.Ala2310=) rs1555164326
NM_018979.4(WNK1):c.6961T>C (p.Cys2321Arg)
NM_018979.4(WNK1):c.6998T>C (p.Phe2333Ser)
NM_018979.4(WNK1):c.7000G>A (p.Gly2334Ser) rs770326362
NM_018979.4(WNK1):c.7003G>A (p.Ala2335Thr) rs375901694
NM_018979.4(WNK1):c.7008A>G (p.Gln2336=)
NM_018979.4(WNK1):c.7021G>A (p.Gly2341Ser) rs146042595
NM_018979.4(WNK1):c.7058C>A (p.Pro2353His)
NM_018979.4(WNK1):c.7114A>G (p.Ser2372Gly)
NM_018979.4(WNK1):c.7119C>T (p.Asn2373=) rs201636547
NM_018979.4(WNK1):c.7121C>T (p.Pro2374Leu) rs1555164537
NM_018979.4(WNK1):c.7133A>G (p.Asn2378Ser) rs1555164556
NM_018979.4(WNK1):c.7138C>T (p.Arg2380Trp) rs56262445
NM_018979.4(WNK1):c.74C>T (p.Pro25Leu) rs1211154368
NM_018979.4(WNK1):c.763C>A (p.Arg255=) rs764593537
NM_018979.4(WNK1):c.774A>G (p.Thr258=) rs1555105614
NM_018979.4(WNK1):c.865T>C (p.Ser289Pro)
NM_018979.4(WNK1):c.885G>A (p.Lys295=) rs765502315
NM_018979.4(WNK1):c.915G>A (p.Thr305=) rs72648609
NM_018979.4(WNK1):c.932+7T>A rs371166762
NM_213655.4(WNK1):c.2146C>T (p.Arg716Cys)
NM_213655.4(WNK1):c.2152C>T (p.Arg718Cys) rs786205473
NM_213655.4(WNK1):c.2172dup (p.Pro725fs)
NM_213655.4(WNK1):c.2203G>A (p.Ala735Thr)
NM_213655.4(WNK1):c.2533C>T (p.Arg845Cys)
NM_213655.4(WNK1):c.2636G>A (p.Trp879Ter)
NM_213655.4(WNK1):c.2768C>T (p.Pro923Leu)
NM_213655.4(WNK1):c.2774A>C (p.Glu925Ala)
NM_213655.4(WNK1):c.3275A>C (p.Gln1092Pro)
NM_213655.4(WNK1):c.3276dup (p.Ser1093fs) rs137852735

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