ClinVar Miner

List of variants in gene WNK1 reported as uncertain significance for Inborn genetic diseases

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Gene type:
ClinVar version:
Total variants: 201
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HGVS dbSNP gnomAD frequency
NM_018979.4(WNK1):c.1855A>G (p.Thr619Ala) rs149388376 0.00086
NM_018979.4(WNK1):c.7021G>A (p.Gly2341Ser) rs146042595 0.00062
NM_018979.4(WNK1):c.578C>A (p.Pro193Gln) rs72647372 0.00058
NM_213655.5(WNK1):c.2360G>A (p.Arg787Gln) rs550716144 0.00057
NM_018979.4(WNK1):c.3578G>A (p.Ser1193Asn) rs72650720 0.00045
NM_213655.5(WNK1):c.2995C>G (p.Leu999Val) rs72649856 0.00043
NM_213655.5(WNK1):c.2834G>A (p.Arg945Gln) rs773884230 0.00041
NM_018979.4(WNK1):c.5050A>G (p.Ile1684Val) rs770568108 0.00039
NM_018979.4(WNK1):c.5741T>C (p.Ile1914Thr) rs184764148 0.00032
NM_018979.4(WNK1):c.5720C>T (p.Pro1907Leu) rs200979623 0.00026
NM_018979.4(WNK1):c.5869C>T (p.Arg1957Cys) rs201766777 0.00026
NM_213655.5(WNK1):c.2939G>T (p.Ser980Ile) rs372091476 0.00025
NM_213655.5(WNK1):c.3371G>A (p.Gly1124Glu) rs201042606 0.00024
NM_213655.5(WNK1):c.2203G>A (p.Ala735Thr) rs72649832 0.00023
NM_018979.4(WNK1):c.865T>C (p.Ser289Pro) rs200234585 0.00022
NM_018979.4(WNK1):c.5851A>G (p.Thr1951Ala) rs72650764 0.00020
NM_213655.5(WNK1):c.2143C>T (p.Arg715Cys) rs772257923 0.00016
NM_018979.4(WNK1):c.1834G>A (p.Gly612Ser) rs146450828 0.00013
NM_018979.4(WNK1):c.4580A>G (p.His1527Arg) rs375717084 0.00011
NM_213655.5(WNK1):c.2533C>T (p.Arg845Cys) rs200794710 0.00011
NM_213655.5(WNK1):c.2605C>A (p.Leu869Ile) rs377073379 0.00011
NM_213655.5(WNK1):c.2215G>A (p.Val739Met) rs72649843 0.00010
NM_018979.4(WNK1):c.5189C>T (p.Thr1730Ile) rs375562377 0.00009
NM_018979.4(WNK1):c.5714T>A (p.Val1905Glu) rs759895083 0.00009
NM_213655.5(WNK1):c.2146C>T (p.Arg716Cys) rs140331977 0.00009
NM_213655.5(WNK1):c.3107C>T (p.Ala1036Val) rs187534119 0.00009
NM_213655.5(WNK1):c.2876T>C (p.Val959Ala) rs765258916 0.00008
NM_018979.4(WNK1):c.3659C>T (p.Ser1220Phe) rs267603708 0.00007
NM_018979.4(WNK1):c.7019C>T (p.Thr2340Met) rs767029551 0.00007
NM_018979.4(WNK1):c.5734A>C (p.Ile1912Leu) rs201995891 0.00006
NM_018979.4(WNK1):c.5870G>A (p.Arg1957His) rs36083875 0.00006
NM_018979.4(WNK1):c.6278G>A (p.Arg2093His) rs200315094 0.00006
NM_213655.5(WNK1):c.2363G>A (p.Arg788His) rs762594801 0.00006
NM_213655.5(WNK1):c.2833C>T (p.Arg945Trp) rs185749579 0.00006
NM_018979.4(WNK1):c.29G>A (p.Ser10Asn) rs867437047 0.00005
NM_018979.4(WNK1):c.346C>T (p.Pro116Ser) rs72647370 0.00005
NM_018979.4(WNK1):c.4130T>A (p.Val1377Glu) rs574069625 0.00005
NM_018979.4(WNK1):c.4816C>G (p.Pro1606Ala) rs375381891 0.00005
NM_018979.4(WNK1):c.5144A>G (p.Asn1715Ser) rs756614581 0.00005
NM_018979.4(WNK1):c.7138C>T (p.Arg2380Trp) rs56262445 0.00005
NM_213655.5(WNK1):c.2152C>T (p.Arg718Cys) rs786205473 0.00005
NM_213655.5(WNK1):c.2414C>T (p.Pro805Leu) rs781318799 0.00005
NM_213655.5(WNK1):c.2606T>G (p.Leu869Arg) rs371167739 0.00005
NM_018979.4(WNK1):c.187A>C (p.Lys63Gln) rs780699781 0.00004
NM_018979.4(WNK1):c.2266C>G (p.Gln756Glu) rs768622577 0.00004
NM_018979.4(WNK1):c.3698C>T (p.Ala1233Val) rs772922134 0.00004
NM_018979.4(WNK1):c.4135A>G (p.Thr1379Ala) rs758763241 0.00004
NM_018979.4(WNK1):c.4247T>C (p.Ile1416Thr) rs763397988 0.00004
NM_018979.4(WNK1):c.4474G>A (p.Val1492Ile) rs774954731 0.00004
NM_018979.4(WNK1):c.4799T>C (p.Ile1600Thr) rs780229328 0.00004
NM_018979.4(WNK1):c.6716C>T (p.Thr2239Met) rs753567713 0.00004
NM_213655.5(WNK1):c.2350C>T (p.Arg784Cys) rs758110645 0.00004
NM_213655.5(WNK1):c.2380C>T (p.Leu794Phe) rs773790877 0.00004
NM_213655.5(WNK1):c.2650G>A (p.Val884Ile) rs764190549 0.00004
NM_018979.4(WNK1):c.1787C>T (p.Ser596Phe) rs144114167 0.00003
NM_018979.4(WNK1):c.2043T>G (p.His681Gln) rs180681076 0.00003
NM_018979.4(WNK1):c.3623G>T (p.Ser1208Ile) rs972194980 0.00003
NM_018979.4(WNK1):c.3899C>T (p.Ser1300Phe) rs143361850 0.00003
NM_018979.4(WNK1):c.5731G>A (p.Gly1911Ser) rs766411372 0.00003
NM_018979.4(WNK1):c.6049G>A (p.Ala2017Thr) rs543902824 0.00003
NM_018979.4(WNK1):c.6092A>G (p.His2031Arg) rs371469607 0.00003
NM_213655.5(WNK1):c.2278C>T (p.Pro760Ser) rs1040459926 0.00003
NM_213655.5(WNK1):c.2413C>T (p.Pro805Ser) rs940318750 0.00003
NM_213655.5(WNK1):c.2653G>T (p.Val885Phe) rs769092053 0.00003
NM_213655.5(WNK1):c.2831C>T (p.Ala944Val) rs780984459 0.00003
NM_213655.5(WNK1):c.2926G>A (p.Gly976Ser) rs369073199 0.00003
NM_213655.5(WNK1):c.2957C>G (p.Pro986Arg) rs374783223 0.00003
NM_018979.4(WNK1):c.128C>G (p.Ala43Gly) rs775564750 0.00002
NM_018979.4(WNK1):c.1688C>T (p.Ser563Leu) rs368508905 0.00002
NM_018979.4(WNK1):c.209C>G (p.Ala70Gly) rs368280492 0.00002
NM_018979.4(WNK1):c.2105C>A (p.Ser702Tyr) rs772771448 0.00002
NM_018979.4(WNK1):c.2320G>A (p.Val774Met) rs144292256 0.00002
NM_018979.4(WNK1):c.3209+4C>T rs768185780 0.00002
NM_018979.4(WNK1):c.4357G>A (p.Val1453Ile) rs774635947 0.00002
NM_018979.4(WNK1):c.4858A>G (p.Ser1620Gly) rs72650733 0.00002
NM_018979.4(WNK1):c.5480C>T (p.Thr1827Ile) rs760439565 0.00002
NM_018979.4(WNK1):c.6230G>A (p.Arg2077Gln) rs771385000 0.00002
NM_213655.5(WNK1):c.2164G>T (p.Val722Phe) rs1166476563 0.00002
NM_213655.5(WNK1):c.2332A>G (p.Met778Val) rs879614884 0.00002
NM_213655.5(WNK1):c.2358C>G (p.His786Gln) rs750430448 0.00002
NM_213655.5(WNK1):c.2474G>A (p.Arg825His) rs781334326 0.00002
NM_213655.5(WNK1):c.3070C>T (p.Arg1024Cys) rs760125099 0.00002
NM_213655.5(WNK1):c.3071G>A (p.Arg1024His) rs772571831 0.00002
NM_018979.4(WNK1):c.11G>T (p.Gly4Val) rs746437666 0.00001
NM_018979.4(WNK1):c.1606G>C (p.Val536Leu) rs145646194 0.00001
NM_018979.4(WNK1):c.1620+4A>C rs765206647 0.00001
NM_018979.4(WNK1):c.2092G>A (p.Val698Ile) rs764336343 0.00001
NM_018979.4(WNK1):c.2114A>G (p.His705Arg) rs761152723 0.00001
NM_018979.4(WNK1):c.2344G>C (p.Val782Leu) rs763491786 0.00001
NM_018979.4(WNK1):c.314C>G (p.Pro105Arg) rs142165599 0.00001
NM_018979.4(WNK1):c.3244G>A (p.Gly1082Ser) rs1307505496 0.00001
NM_018979.4(WNK1):c.3271G>A (p.Gly1091Arg) rs1565575135 0.00001
NM_018979.4(WNK1):c.3314C>G (p.Ser1105Cys) rs767286874 0.00001
NM_018979.4(WNK1):c.3325C>T (p.Arg1109Cys) rs1309903063 0.00001
NM_018979.4(WNK1):c.3335A>G (p.His1112Arg) rs2548992149 0.00001
NM_018979.4(WNK1):c.3647G>A (p.Gly1216Asp) rs757939257 0.00001
NM_018979.4(WNK1):c.397G>A (p.Val133Ile) rs753342253 0.00001
NM_018979.4(WNK1):c.4036G>A (p.Val1346Ile) rs925653592 0.00001
NM_018979.4(WNK1):c.428C>G (p.Pro143Arg) rs1231436981 0.00001
NM_018979.4(WNK1):c.449G>C (p.Gly150Ala) rs1326246152 0.00001
NM_018979.4(WNK1):c.4546C>A (p.Pro1516Thr) rs1183688055 0.00001
NM_018979.4(WNK1):c.47T>A (p.Leu16Gln) rs774482432 0.00001
NM_018979.4(WNK1):c.4832C>G (p.Pro1611Arg) rs949556621 0.00001
NM_018979.4(WNK1):c.4888C>A (p.Gln1630Lys) rs770478100 0.00001
NM_018979.4(WNK1):c.504G>T (p.Gln168His) rs1332815711 0.00001
NM_018979.4(WNK1):c.5100C>G (p.Ser1700Arg) rs763331677 0.00001
NM_018979.4(WNK1):c.5116A>G (p.Thr1706Ala) rs1262070698 0.00001
NM_018979.4(WNK1):c.511C>T (p.Leu171Phe) rs201447798 0.00001
NM_018979.4(WNK1):c.5174T>C (p.Val1725Ala) rs539118620 0.00001
NM_018979.4(WNK1):c.5258A>G (p.Lys1753Arg) rs752078094 0.00001
NM_018979.4(WNK1):c.5290G>T (p.Val1764Leu) rs201521760 0.00001
NM_018979.4(WNK1):c.5410C>G (p.Leu1804Val) rs753866397 0.00001
NM_018979.4(WNK1):c.5584-5A>G rs771801197 0.00001
NM_018979.4(WNK1):c.5636A>G (p.Asp1879Gly) rs968933608 0.00001
NM_018979.4(WNK1):c.568G>A (p.Ala190Thr) rs1229285578 0.00001
NM_018979.4(WNK1):c.5726C>T (p.Pro1909Leu) rs548442202 0.00001
NM_018979.4(WNK1):c.5809A>T (p.Thr1937Ser) rs2497538831 0.00001
NM_018979.4(WNK1):c.6095C>T (p.Ser2032Leu) rs780191582 0.00001
NM_018979.4(WNK1):c.6267C>G (p.Asp2089Glu) rs1185508045 0.00001
NM_018979.4(WNK1):c.6406A>G (p.Ser2136Gly) rs775024404 0.00001
NM_018979.4(WNK1):c.6410G>A (p.Arg2137Gln) rs746647121 0.00001
NM_018979.4(WNK1):c.6562T>C (p.Ser2188Pro) rs141322375 0.00001
NM_018979.4(WNK1):c.6691G>A (p.Ala2231Thr) rs778252327 0.00001
NM_018979.4(WNK1):c.6952A>C (p.Lys2318Gln) rs1323400413 0.00001
NM_018979.4(WNK1):c.6986C>T (p.Pro2329Leu) rs781574573 0.00001
NM_018979.4(WNK1):c.7097_7098dup (p.Leu2367fs) rs1565626163 0.00001
NM_018979.4(WNK1):c.7127G>A (p.Gly2376Asp) rs760116094 0.00001
NM_018979.4(WNK1):c.7133A>G (p.Asn2378Ser) rs1555164556 0.00001
NM_018979.4(WNK1):c.76A>G (p.Lys26Glu) rs977121307 0.00001
NM_018979.4(WNK1):c.98C>T (p.Ser33Phe) rs1939524099 0.00001
NM_213655.5(WNK1):c.2245T>C (p.Cys749Arg) rs370768693 0.00001
NM_213655.5(WNK1):c.2461A>G (p.Thr821Ala) rs766552593 0.00001
NM_213655.5(WNK1):c.2529G>C (p.Gln843His) rs1468150183 0.00001
NM_213655.5(WNK1):c.2608C>A (p.Leu870Ile) rs762647323 0.00001
NM_213655.5(WNK1):c.2611C>T (p.Pro871Ser) rs1469789866 0.00001
NM_213655.5(WNK1):c.2726C>T (p.Pro909Leu) rs2548787342 0.00001
NM_213655.5(WNK1):c.2890A>G (p.Met964Val) rs377113516 0.00001
NM_213655.5(WNK1):c.2983C>T (p.His995Tyr) rs1951866790 0.00001
NM_213655.5(WNK1):c.3017G>T (p.Gly1006Val) rs760258456 0.00001
NM_213655.5(WNK1):c.3100C>T (p.His1034Tyr) rs1951876969 0.00001
NM_213655.5(WNK1):c.3148T>C (p.Cys1050Arg) rs566383773 0.00001
NM_213655.5(WNK1):c.3347C>A (p.Thr1116Asn) rs370339079 0.00001
NM_213655.5(WNK1):c.3364C>T (p.Pro1122Ser) rs759530304 0.00001
NM_213655.5(WNK1):c.3370G>A (p.Gly1124Arg) rs1277687516 0.00001
NM_213655.5(WNK1):c.3409G>T (p.Asp1137Tyr) rs755541973 0.00001
NM_213655.5(WNK1):c.3623T>C (p.Leu1208Pro) rs1234365182 0.00001
NM_018979.4(WNK1):c.1245G>A (p.Met415Ile) rs2548299553
NM_018979.4(WNK1):c.1343C>T (p.Ala448Val) rs2548596963
NM_018979.4(WNK1):c.1603G>T (p.Asp535Tyr) rs763675447
NM_018979.4(WNK1):c.1733A>G (p.Glu578Gly) rs753979138
NM_018979.4(WNK1):c.1790G>A (p.Ser597Asn) rs757732497
NM_018979.4(WNK1):c.1982C>A (p.Ser661Tyr) rs763139220
NM_018979.4(WNK1):c.199G>A (p.Gly67Arg) rs1939541687
NM_018979.4(WNK1):c.2329C>T (p.Pro777Ser) rs2548919604
NM_018979.4(WNK1):c.2373+4A>C rs1265959857
NM_018979.4(WNK1):c.3197C>T (p.Ser1066Phe) rs2548987467
NM_018979.4(WNK1):c.3372+3A>G rs1426580785
NM_018979.4(WNK1):c.338A>G (p.Gln113Arg) rs1244121682
NM_018979.4(WNK1):c.3530T>G (p.Phe1177Cys) rs1953359993
NM_018979.4(WNK1):c.3536A>T (p.Asp1179Val) rs2549013879
NM_018979.4(WNK1):c.3614G>C (p.Gly1205Ala) rs761597327
NM_018979.4(WNK1):c.37C>T (p.Pro13Ser) rs1261454945
NM_018979.4(WNK1):c.4093G>A (p.Asp1365Asn) rs1418392646
NM_018979.4(WNK1):c.4196C>G (p.Pro1399Arg) rs777860000
NM_018979.4(WNK1):c.4317G>C (p.Glu1439Asp) rs1002244239
NM_018979.4(WNK1):c.4328C>A (p.Ser1443Tyr) rs372955308
NM_018979.4(WNK1):c.4352_4363del (p.Val1451_Ser1454del) rs753602469
NM_018979.4(WNK1):c.4400C>T (p.Pro1467Leu) rs1953542458
NM_018979.4(WNK1):c.4442G>A (p.Gly1481Asp) rs2549045355
NM_018979.4(WNK1):c.4481C>T (p.Thr1494Ile) rs775967609
NM_018979.4(WNK1):c.4577C>T (p.Ala1526Val) rs1953558339
NM_018979.4(WNK1):c.464C>A (p.Thr155Asn) rs940919645
NM_018979.4(WNK1):c.4804C>T (p.Pro1602Ser) rs747564375
NM_018979.4(WNK1):c.4865C>T (p.Pro1622Leu) rs2549051348
NM_018979.4(WNK1):c.5119A>G (p.Thr1707Ala) rs1953602352
NM_018979.4(WNK1):c.5448+1G>T rs1953966878
NM_018979.4(WNK1):c.5590G>A (p.Val1864Ile) rs765566878
NM_018979.4(WNK1):c.5669C>T (p.Ser1890Leu) rs1954717328
NM_018979.4(WNK1):c.5675C>T (p.Ser1892Phe) rs1954718082
NM_018979.4(WNK1):c.5738C>A (p.Thr1913Asn) rs1592226509
NM_018979.4(WNK1):c.5878G>A (p.Val1960Ile) rs1010227759
NM_018979.4(WNK1):c.6261T>G (p.Ile2087Met) rs2497613706
NM_018979.4(WNK1):c.62C>T (p.Pro21Leu) rs764758850
NM_018979.4(WNK1):c.6886A>G (p.Thr2296Ala) rs2498097294
NM_018979.4(WNK1):c.6895C>G (p.Leu2299Val) rs143616411
NM_018979.4(WNK1):c.7033C>T (p.Pro2345Ser) rs766617331
NM_018979.4(WNK1):c.866C>T (p.Ser289Phe) rs2154009717
NM_213655.5(WNK1):c.2172dup (p.Pro725fs) rs910119961
NM_213655.5(WNK1):c.2213del (p.Pro738fs) rs1413368281
NM_213655.5(WNK1):c.2266C>T (p.Pro756Ser) rs1951561011
NM_213655.5(WNK1):c.2420G>A (p.Gly807Glu) rs760693826
NM_213655.5(WNK1):c.2653G>C (p.Val885Leu) rs769092053
NM_213655.5(WNK1):c.2705A>G (p.Gln902Arg) rs2548786933
NM_213655.5(WNK1):c.2747A>G (p.Tyr916Cys) rs749154375
NM_213655.5(WNK1):c.2774A>C (p.Glu925Ala) rs764243416
NM_213655.5(WNK1):c.2846A>G (p.Gln949Arg) rs1419294648
NM_213655.5(WNK1):c.3065C>G (p.Ala1022Gly) rs2548795685
NM_213655.5(WNK1):c.3457C>A (p.Pro1153Thr) rs2548804567
NM_213655.5(WNK1):c.3578C>T (p.Ser1193Phe) rs1951922743
NM_213655.5(WNK1):c.3581A>C (p.Gln1194Pro) rs1951922964
NM_213655.5(WNK1):c.3614G>T (p.Gly1205Val) rs1236055095

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