ClinVar Miner

List of variants reported as uncertain significance for Pseudohypoaldosteronism type 2C by Illumina Laboratory Services, Illumina

Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 79
Download table as spreadsheet
HGVS dbSNP gnomAD frequency
NM_018979.4(WNK1):c.-253A>G rs549380671 0.00110
NM_018979.4(WNK1):c.*164G>A rs767710474 0.00071
NM_018979.4(WNK1):c.-368G>T rs886049859 0.00048
NM_018979.4(WNK1):c.*1056C>A rs765836409 0.00041
NM_018979.4(WNK1):c.*143C>A rs960409528 0.00024
NM_018979.4(WNK1):c.*1744C>T rs886048820 0.00017
NM_018979.4(WNK1):c.-234T>C rs368645018 0.00011
NM_018979.4(WNK1):c.*1307G>A rs547941922 0.00009
NM_018979.4(WNK1):c.*2244T>G rs565358026 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.*1169G>A rs549160638 0.00004
NM_018979.4(WNK1):c.*642G>A rs886048810 0.00004
NM_018979.4(WNK1):c.198T>C (p.Arg66=) rs777517901 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.-291G>A rs886049862 0.00002
NM_018979.4(WNK1):c.126G>A (p.Ala42=) rs935728437 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.*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.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.5041T>C (p.Ser1681Pro) rs1565585036 0.00001
NM_018979.4(WNK1):c.5294G>C (p.Gly1765Ala) rs756087008 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.*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.*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.-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.3175A>G (p.Thr1059Ala) rs886049924
NM_018979.4(WNK1):c.3468C>G (p.Pro1156=) rs753078534
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.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

The information on this website is not intended for direct diagnostic use or medical decision-making without review by a genetics professional. Individuals should not change their health behavior solely on the basis of information contained on this website. Neither the University of Utah nor the National Institutes of Health independently verfies the submitted information. If you have questions about the information contained on this website, please see a health care professional.