ClinVar Miner

List of variants studied for Pseudohypoaldosteronism type 2C by Illumina Laboratory Services, Illumina

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Minimum conflict level:
ClinVar version:
Total variants: 197
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HGVS dbSNP gnomAD frequency
NM_018979.4(WNK1):c.*1986G>A rs2023944 0.98853
NM_018979.4(WNK1):c.6828C>T (p.Tyr2276=) rs4766334 0.98834
NM_018979.4(WNK1):c.4517G>C (p.Cys1506Ser) rs7955371 0.98791
NM_018979.4(WNK1):c.258T>C (p.Cys86=) rs3168640 0.97485
NM_018979.4(WNK1):c.3166A>C (p.Thr1056Pro) rs956868 0.84165
NM_018979.4(WNK1):c.1287A>G (p.Ala429=) rs10774466 0.71926
NM_018979.4(WNK1):c.2328G>A (p.Gln776=) rs1012729 0.69563
NM_018979.4(WNK1):c.-91T>G rs3088353 0.42310
NM_018979.4(WNK1):c.5424G>T (p.Met1808Ile) rs12828016 0.40721
NM_018979.4(WNK1):c.3960C>T (p.Asn1320=) rs7300444 0.39853
NM_018979.4(WNK1):c.2529G>A (p.Gln843=) rs9804992 0.14500
NM_018979.4(WNK1):c.*2308T>C rs1060499 0.12853
NM_018979.4(WNK1):c.1401-11C>A rs11064573 0.12417
NM_018979.4(WNK1):c.1479T>C (p.Asp493=) rs2286006 0.12413
NM_018979.4(WNK1):c.4044C>T (p.Thr1348=) rs10849577 0.12407
NM_018979.4(WNK1):c.3489+4C>T rs34032084 0.09932
NM_018979.4(WNK1):c.421G>A (p.Ala141Thr) rs11554421 0.09706
NM_018979.4(WNK1):c.759+15A>C rs11064518 0.05581
NM_018979.4(WNK1):c.1994C>T (p.Thr665Ile) rs2286007 0.05498
NM_018979.4(WNK1):c.-452G>A rs118007973 0.04492
NM_018979.4(WNK1):c.*1146G>A rs78913352 0.02385
NM_018979.4(WNK1):c.*758C>G rs75767195 0.01841
NM_018979.4(WNK1):c.3490-5T>A rs72650719 0.01759
NM_018979.4(WNK1):c.1512A>G (p.Leu504=) rs56325964 0.01671
NM_018979.4(WNK1):c.2081T>C (p.Ile694Thr) rs61736905 0.01664
NM_018979.4(WNK1):c.1526T>C (p.Ile509Thr) rs34728563 0.01649
NM_018979.4(WNK1):c.*1034T>C rs112549606 0.01124
NM_018979.4(WNK1):c.-203C>G rs72647363 0.01082
NM_018979.4(WNK1):c.*2413G>T rs11571497 0.00958
NM_018979.4(WNK1):c.5397A>G (p.Gln1799=) rs148639270 0.00948
NM_018979.4(WNK1):c.*277A>T rs80258895 0.00882
NM_018979.4(WNK1):c.5468C>T (p.Pro1823Leu) rs17755373 0.00870
NM_018979.4(WNK1):c.-328C>G rs189463195 0.00854
NM_018979.4(WNK1):c.5991G>A (p.Glu1997=) rs61736907 0.00815
NM_018979.4(WNK1):c.2020A>G (p.Thr674Ala) rs11833299 0.00803
NM_018979.4(WNK1):c.-25C>G rs72647367 0.00762
NM_018979.4(WNK1):c.684C>T (p.Gly228=) rs72647374 0.00748
NM_018979.4(WNK1):c.5481A>G (p.Thr1827=) rs61736908 0.00679
NM_018979.4(WNK1):c.*2474A>G rs11571496 0.00595
NM_018979.4(WNK1):c.2052A>G (p.Ala684=) rs72648690 0.00413
NM_018979.4(WNK1):c.-598C>G rs544362530 0.00402
NM_018979.4(WNK1):c.3654A>G (p.Ser1218=) rs141971833 0.00316
NM_018979.4(WNK1):c.-213G>T rs372134044 0.00300
NM_018979.4(WNK1):c.5583+3A>G rs72650758 0.00270
NM_018979.4(WNK1):c.5281-4G>A rs72650740 0.00269
NM_018979.4(WNK1):c.2490G>A (p.Pro830=) rs79816263 0.00211
NM_018979.4(WNK1):c.*1937C>G rs2023943 0.00200
NM_018979.4(WNK1):c.-514C>T rs577916238 0.00191
NM_018979.4(WNK1):c.1074C>T (p.Thr358=) rs72648621 0.00160
NM_018979.4(WNK1):c.6150T>C (p.Leu2050=) rs151331381 0.00157
NM_018979.4(WNK1):c.*1517T>C rs535956701 0.00130
NM_018979.4(WNK1):c.*2583C>T rs11571493 0.00122
NM_018979.4(WNK1):c.-159C>T rs72647364 0.00119
NM_018979.4(WNK1):c.-253A>G rs549380671 0.00110
NM_018979.4(WNK1):c.3112-10C>T rs72650715 0.00103
NM_018979.4(WNK1):c.2206A>G (p.Ile736Val) rs147099510 0.00096
NM_018979.4(WNK1):c.446C>T (p.Ala149Val) rs34880640 0.00091
NM_018979.4(WNK1):c.1855A>G (p.Thr619Ala) rs149388376 0.00086
NM_018979.4(WNK1):c.*2007C>T rs150269723 0.00085
NM_018979.4(WNK1):c.-122C>T rs538911254 0.00078
NM_018979.4(WNK1):c.-71G>A rs140209689 0.00078
NM_018979.4(WNK1):c.4983T>C (p.Ser1661=) rs149852592 0.00072
NM_018979.4(WNK1):c.*164G>A rs767710474 0.00071
NM_018979.4(WNK1):c.*531C>T rs192527684 0.00064
NM_018979.4(WNK1):c.7021G>A (p.Gly2341Ser) rs146042595 0.00062
NM_018979.4(WNK1):c.3664-15T>A rs201726656 0.00061
NM_018979.4(WNK1):c.4354A>G (p.Thr1452Ala) rs142543401 0.00061
NM_018979.4(WNK1):c.*1764G>T rs147760490 0.00060
NM_018979.4(WNK1):c.578C>A (p.Pro193Gln) rs72647372 0.00058
NM_018979.4(WNK1):c.4320C>T (p.Ile1440=) rs72650730 0.00055
NM_018979.4(WNK1):c.2336C>T (p.Ala779Val) rs141428612 0.00050
NM_018979.4(WNK1):c.-368G>T rs886049859 0.00048
NM_018979.4(WNK1):c.2895C>T (p.Asn965=) rs138446333 0.00048
NM_018979.4(WNK1):c.915G>A (p.Thr305=) rs72648609 0.00048
NM_018979.4(WNK1):c.3578G>A (p.Ser1193Asn) rs72650720 0.00045
NM_018979.4(WNK1):c.2468A>G (p.His823Arg) rs56015776 0.00043
NM_018979.4(WNK1):c.*1056C>A rs765836409 0.00041
NM_018979.4(WNK1):c.*2236T>C rs11571500 0.00035
NM_018979.4(WNK1):c.3699G>A (p.Ala1233=) rs147752204 0.00033
NM_018979.4(WNK1):c.5869C>T (p.Arg1957Cys) rs201766777 0.00026
NM_018979.4(WNK1):c.5496G>A (p.Gln1832=) rs138219481 0.00025
NM_018979.4(WNK1):c.*143C>A rs960409528 0.00024
NM_018979.4(WNK1):c.4564G>A (p.Val1522Met) rs146861951 0.00023
NM_018979.4(WNK1):c.5833C>T (p.Arg1945Cys) rs117016551 0.00021
NM_018979.4(WNK1):c.5851A>G (p.Thr1951Ala) rs72650764 0.00020
NM_018979.4(WNK1):c.3859G>T (p.Ala1287Ser) rs149186881 0.00018
NM_018979.4(WNK1):c.*1744C>T rs886048820 0.00017
NM_018979.4(WNK1):c.1834G>A (p.Gly612Ser) rs146450828 0.00014
NM_018979.4(WNK1):c.3188C>T (p.Thr1063Ile) rs201379287 0.00013
NM_018979.4(WNK1):c.*1145C>T rs186013009 0.00011
NM_018979.4(WNK1):c.-234T>C rs368645018 0.00011
NM_018979.4(WNK1):c.210G>A (p.Ala70=) rs145076179 0.00011
NM_018979.4(WNK1):c.*1307G>A rs547941922 0.00009
NM_018979.4(WNK1):c.*24A>G rs367692602 0.00009
NM_018979.4(WNK1):c.1434C>T (p.Phe478=) rs61736906 0.00009
NM_018979.4(WNK1):c.5189C>T (p.Thr1730Ile) rs375562377 0.00009
NM_018979.4(WNK1):c.5968C>T (p.Pro1990Ser) rs577801497 0.00009
NM_018979.4(WNK1):c.3019A>G (p.Met1007Val) rs191295023 0.00008
NM_018979.4(WNK1):c.3698C>T (p.Ala1233Val) rs772922134 0.00008
NM_018979.4(WNK1):c.*2244T>G rs565358026 0.00007
NM_018979.4(WNK1):c.*409C>T rs367847712 0.00007
NM_018979.4(WNK1):c.3016C>T (p.Pro1006Ser) rs186736970 0.00007
NM_018979.4(WNK1):c.6603T>C (p.Asp2201=) rs770912702 0.00007
NM_018979.4(WNK1):c.*1304C>T rs766319091 0.00006
NM_018979.4(WNK1):c.*441C>G rs753439066 0.00006
NM_018979.4(WNK1):c.*613T>C rs1047791734 0.00006
NM_018979.4(WNK1):c.-638C>T rs982467452 0.00006
NM_018979.4(WNK1):c.5513C>T (p.Ser1838Phe) rs747791200 0.00006
NM_018979.4(WNK1):c.*1169G>A rs549160638 0.00004
NM_018979.4(WNK1):c.*642G>A rs886048810 0.00004
NM_018979.4(WNK1):c.-23C>T rs556319875 0.00004
NM_018979.4(WNK1):c.108G>C (p.Gly36=) rs375485682 0.00004
NM_018979.4(WNK1):c.198T>C (p.Arg66=) rs777517901 0.00004
NM_018979.4(WNK1):c.2266C>G (p.Gln756Glu) rs768622577 0.00004
NM_018979.4(WNK1):c.3516A>G (p.Ile1172Met) rs150532648 0.00004
NM_018979.4(WNK1):c.473G>C (p.Ser158Thr) rs920732487 0.00004
NM_018979.4(WNK1):c.*1971G>C rs536971299 0.00003
NM_018979.4(WNK1):c.296C>T (p.Pro99Leu) rs560595238 0.00003
NM_018979.4(WNK1):c.3899C>T (p.Ser1300Phe) rs143361850 0.00003
NM_018979.4(WNK1):c.5574A>T (p.Gly1858=) rs148254159 0.00003
NM_018979.4(WNK1):c.7119C>T (p.Asn2373=) rs201636547 0.00003
NM_018979.4(WNK1):c.-291G>A rs886049862 0.00002
NM_018979.4(WNK1):c.126G>A (p.Ala42=) rs935728437 0.00002
NM_018979.4(WNK1):c.128C>G (p.Ala43Gly) rs775564750 0.00002
NM_018979.4(WNK1):c.209C>G (p.Ala70Gly) rs368280492 0.00002
NM_018979.4(WNK1):c.295C>T (p.Pro99Ser) rs563691424 0.00002
NM_018979.4(WNK1):c.3527C>T (p.Ser1176Leu) rs754769050 0.00002
NM_018979.4(WNK1):c.4043C>T (p.Thr1348Ile) rs746601991 0.00002
NM_018979.4(WNK1):c.5555C>G (p.Ala1852Gly) rs886048785 0.00002
NM_018979.4(WNK1):c.5943T>G (p.Phe1981Leu) rs72650765 0.00002
NM_018979.4(WNK1):c.6497C>T (p.Thr2166Ile) rs762925275 0.00002
NM_018979.4(WNK1):c.*148T>C rs987808519 0.00001
NM_018979.4(WNK1):c.*2090T>C rs886048826 0.00001
NM_018979.4(WNK1):c.*533G>C rs1274582557 0.00001
NM_018979.4(WNK1):c.*558G>C rs1364847769 0.00001
NM_018979.4(WNK1):c.145G>A (p.Gly49Ser) rs1281317365 0.00001
NM_018979.4(WNK1):c.2508C>T (p.Leu836=) rs886049906 0.00001
NM_018979.4(WNK1):c.2625G>A (p.Thr875=) rs763000812 0.00001
NM_018979.4(WNK1):c.264C>T (p.Ser88=) rs773586473 0.00001
NM_018979.4(WNK1):c.266A>G (p.Asn89Ser) rs886049866 0.00001
NM_018979.4(WNK1):c.2710A>G (p.Thr904Ala) rs752492830 0.00001
NM_018979.4(WNK1):c.2926C>T (p.Leu976=) rs761135188 0.00001
NM_018979.4(WNK1):c.2969A>G (p.Tyr990Cys) rs886049923 0.00001
NM_018979.4(WNK1):c.3354A>C (p.Pro1118=) rs549781052 0.00001
NM_018979.4(WNK1):c.3662A>G (p.Gln1221Arg) rs886049925 0.00001
NM_018979.4(WNK1):c.4270A>G (p.Ile1424Val) rs752331641 0.00001
NM_018979.4(WNK1):c.4384G>C (p.Gly1462Arg) rs368621387 0.00001
NM_018979.4(WNK1):c.5041T>C (p.Ser1681Pro) rs1565585036 0.00001
NM_018979.4(WNK1):c.5258A>G (p.Lys1753Arg) rs752078094 0.00001
NM_018979.4(WNK1):c.5294G>C (p.Gly1765Ala) rs756087008 0.00001
NM_018979.4(WNK1):c.5601C>T (p.Asp1867=) rs763160743 0.00001
NM_018979.4(WNK1):c.5878G>T (p.Val1960Leu) rs1010227759 0.00001
NM_018979.4(WNK1):c.6101A>G (p.His2034Arg) rs72650766 0.00001
NM_018979.4(WNK1):c.7008A>G (p.Gln2336=) rs369782445 0.00001
NM_018979.4(WNK1):c.*1342G>A rs77954451
NM_018979.4(WNK1):c.*1342G>T rs77954451
NM_018979.4(WNK1):c.*1678C>G rs1956004391
NM_018979.4(WNK1):c.*1690T>C rs886048818
NM_018979.4(WNK1):c.*176C>A rs528692788
NM_018979.4(WNK1):c.*176C>T rs528692788
NM_018979.4(WNK1):c.*1869A>G rs886048821
NM_018979.4(WNK1):c.*1982C>T rs1592289088
NM_018979.4(WNK1):c.*1990G>A rs886048825
NM_018979.4(WNK1):c.*2134G>C rs1956037581
NM_018979.4(WNK1):c.*2562G>A rs773462361
NM_018979.4(WNK1):c.*290A>C rs1955927201
NM_018979.4(WNK1):c.*378A>G rs886048804
NM_018979.4(WNK1):c.*389C>T rs886048805
NM_018979.4(WNK1):c.*463C>A rs886048806
NM_018979.4(WNK1):c.*47C>G rs556130311
NM_018979.4(WNK1):c.*643G>A rs886048811
NM_018979.4(WNK1):c.*701T>C rs1955947053
NM_018979.4(WNK1):c.*766G>A rs886048814
NM_018979.4(WNK1):c.-260G>T rs886049864
NM_018979.4(WNK1):c.-263C>A rs886049863
NM_018979.4(WNK1):c.-34C>T rs537709613
NM_018979.4(WNK1):c.-373G>C rs926467368
NM_018979.4(WNK1):c.1790G>A (p.Ser597Asn) rs757732497
NM_018979.4(WNK1):c.202G>A (p.Ala68Thr) rs886049865
NM_018979.4(WNK1):c.2246C>T (p.Ala749Val) rs886049905
NM_018979.4(WNK1):c.2333A>G (p.Gln778Arg) rs72649879
NM_018979.4(WNK1):c.2465C>T (p.Ala822Val) rs1952968012
NM_018979.4(WNK1):c.2658G>C (p.Pro886=) rs200965163
NM_018979.4(WNK1):c.3175A>G (p.Thr1059Ala) rs886049924
NM_018979.4(WNK1):c.3468C>G (p.Pro1156=) rs753078534
NM_018979.4(WNK1):c.3845-14G>A rs368270119
NM_018979.4(WNK1):c.3986C>G (p.Thr1329Arg) rs1490023753
NM_018979.4(WNK1):c.4091A>G (p.Asn1364Ser) rs770784437
NM_018979.4(WNK1):c.4490C>T (p.Ser1497Leu) rs1953551018
NM_018979.4(WNK1):c.4830G>A (p.Val1610=) rs1953580574
NM_018979.4(WNK1):c.4855C>A (p.His1619Asn) rs1953582555
NM_018979.4(WNK1):c.491G>T (p.Arg164Leu) rs886049867
NM_018979.4(WNK1):c.6032C>A (p.Ser2011Tyr) rs560836712
NM_018979.4(WNK1):c.6442C>G (p.Leu2148Val) rs886048786
NM_018979.4(WNK1):c.6825T>C (p.Asn2275=) rs374193324
NM_018979.4(WNK1):c.7139G>A (p.Arg2380Gln) rs531919850
NM_018979.4(WNK1):c.99C>T (p.Ser33=) rs748052079

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