ClinVar Miner

List of variants studied for Pseudohypoaldosteronism type 2A

Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 67
Download table as spreadsheet
HGVS dbSNP gnomAD frequency
NM_018979.4(WNK1):c.759+16_759+18dup rs398088143 0.08796
NM_018979.4(WNK1):c.*1904dup rs1555165765 0.00019
NM_018979.4(WNK1):c.2652G>A (p.Ala884=) rs142528714 0.00006
NM_018979.4(WNK1):c.5734A>C (p.Ile1912Leu) rs201995891 0.00006
NM_018979.4(WNK1):c.2624C>G (p.Thr875Arg) rs529032048 0.00003
NM_032387.5(WNK4):c.2837C>G (p.Pro946Arg) rs200187290 0.00003
NM_017415.3(KLHL3):c.1151G>A (p.Arg384Gln) rs199469629 0.00002
NM_018979.4(WNK1):c.*1060C>G rs533399537 0.00002
NM_017415.3(KLHL3):c.1280T>C (p.Met427Thr) rs199469642 0.00001
NM_017415.3(KLHL3):c.1292G>A (p.Arg431Gln) rs199469643 0.00001
NM_017415.3(KLHL3):c.1670A>G (p.Tyr557Cys) rs199469645 0.00001
NM_017415.3(KLHL3):c.1723C>T (p.Arg575Trp) rs199469646 0.00001
NM_017415.3(KLHL3):c.718C>T (p.Arg240Ter) rs199469638 0.00001
NM_018979.4(WNK1):c.*2576_*2579dup rs886048832 0.00001
NM_003590.5(CUL3):c.1207-12T>G rs199469651
NM_003590.5(CUL3):c.1207-1G>A rs199469654
NM_003590.5(CUL3):c.1207-26A>G rs199469650
NM_003590.5(CUL3):c.1207-28T>G rs199469649
NM_003590.5(CUL3):c.1207-3C>T rs199469653
NM_003590.5(CUL3):c.1207-5T>A rs199469652
NM_003590.5(CUL3):c.1236G>A (p.Leu412=) rs199469655
NM_003590.5(CUL3):c.1238A>G (p.Asp413Gly) rs199469656
NM_003590.5(CUL3):c.1376A>G (p.Lys459Arg) rs199469658
NM_003590.5(CUL3):c.1376_1377+4del rs199469657
NM_003590.5(CUL3):c.1377+1G>C rs199469660
NM_003590.5(CUL3):c.1377+1dup rs199469659
NM_003590.5(CUL3):c.1377+3A>G rs199469661
NM_003590.5(CUL3):c.1377G>A (p.Lys459=) rs886038765
NM_017415.3(KLHL3):c.1007G>T (p.Arg336Ile) rs199469640
NM_017415.3(KLHL3):c.1019C>T (p.Ala340Val) rs199469628
NM_017415.3(KLHL3):c.1160T>C (p.Leu387Pro) rs199469630
NM_017415.3(KLHL3):c.1229C>T (p.Ser410Leu) rs199469641
NM_017415.3(KLHL3):c.1295G>A (p.Ser432Asn) rs199469631
NM_017415.3(KLHL3):c.1298G>A (p.Ser433Asn) rs199469632
NM_017415.3(KLHL3):c.1410G>A (p.Trp470Ter) rs199469644
NM_017415.3(KLHL3):c.1480G>A (p.Ala494Thr) rs199469633
NM_017415.3(KLHL3):c.1501C>A (p.Pro501Thr) rs199469634
NM_017415.3(KLHL3):c.1582C>T (p.Arg528Cys) rs199469635
NM_017415.3(KLHL3):c.1583G>A (p.Arg528His) rs199469636
NM_017415.3(KLHL3):c.230C>A (p.Ala77Glu) rs199469623
NM_017415.3(KLHL3):c.232A>G (p.Met78Val) rs199469624
NM_017415.3(KLHL3):c.254A>C (p.Glu85Ala) rs199469625
NM_017415.3(KLHL3):c.430C>T (p.Gln144Ter) rs199469637
NM_017415.3(KLHL3):c.491G>T (p.Cys164Phe) rs199469626
NM_017415.3(KLHL3):c.721del (p.Leu241fs) rs199469647
NM_017415.3(KLHL3):c.753+1G>A rs199469648
NM_017415.3(KLHL3):c.926A>G (p.Gln309Arg) rs199469627
NM_017415.3(KLHL3):c.965T>G (p.Phe322Cys) rs199469639
NM_018979.4(WNK1):c.*1132_*1133del rs546217405
NM_018979.4(WNK1):c.*1347del rs886048817
NM_018979.4(WNK1):c.*1722ATTA[1] rs561811313
NM_018979.4(WNK1):c.*1904CAC[5] rs778502996
NM_018979.4(WNK1):c.*1932AG[1] rs529382173
NM_018979.4(WNK1):c.*2192_*2196dup rs568163399
NM_018979.4(WNK1):c.*2378_*2381dup rs1399161251
NM_018979.4(WNK1):c.*2615_*2618dup rs376351532
NM_018979.4(WNK1):c.*487_*490del rs144238789
NM_018979.4(WNK1):c.*628del rs886048808
NM_018979.4(WNK1):c.*628dup rs886048808
NM_018979.4(WNK1):c.*654_*655del rs560549119
NM_018979.4(WNK1):c.*762CT[1] rs886048813
NM_018979.4(WNK1):c.*772_*776del rs886048815
NM_018979.4(WNK1):c.-308G>T rs886049861
NM_018979.4(WNK1):c.-351dup rs886049860
NM_018979.4(WNK1):c.4605_4607del (p.Ser1536del) rs72650732
NM_018979.4(WNK1):c.5370G>T (p.Gln1790His) rs773797682
NM_032387.5(WNK4):c.717G>T (p.Ser239=) rs765644398

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.