ClinVar Miner

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

Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 69
Download table as spreadsheet
HGVS dbSNP gnomAD frequency
NM_017415.3(KLHL3):c.*3204A>T rs4835684 0.35371
NM_017415.3(KLHL3):c.-286C>G rs140523800 0.00227
NM_017415.3(KLHL3):c.*1657G>A rs375193765 0.00223
NM_017415.3(KLHL3):c.-303G>C rs567542768 0.00216
NM_017415.3(KLHL3):c.*4356G>T rs757402685 0.00047
NM_017415.3(KLHL3):c.*2360G>A rs533076689 0.00044
NM_017415.3(KLHL3):c.*2763C>T rs550345984 0.00034
NM_017415.3(KLHL3):c.*2088C>T rs182886272 0.00031
NM_017415.3(KLHL3):c.-337A>G rs886059961 0.00031
NM_017415.3(KLHL3):c.*1916G>A rs534983852 0.00024
NM_017415.3(KLHL3):c.-344G>T rs886059962 0.00023
NM_017415.3(KLHL3):c.*4257A>G rs768556632 0.00022
NM_017415.3(KLHL3):c.*224G>T rs536807069 0.00019
NM_017415.3(KLHL3):c.*4166T>C rs946477406 0.00018
NM_017415.3(KLHL3):c.*1055A>G rs886059950 0.00016
NM_017415.3(KLHL3):c.*2337A>G rs181120455 0.00016
NM_017415.3(KLHL3):c.*4066C>T rs544519958 0.00015
NM_017415.3(KLHL3):c.-402C>T rs774532097 0.00013
NM_017415.3(KLHL3):c.*4438C>T rs1046477612 0.00012
NM_017415.3(KLHL3):c.*2941G>A rs753164963 0.00011
NM_017415.3(KLHL3):c.*299G>A rs539132895 0.00011
NM_017415.3(KLHL3):c.*3051G>A rs373499483 0.00009
NM_017415.3(KLHL3):c.*2023G>C rs886059948 0.00008
NM_017415.3(KLHL3):c.*3271A>G rs886059940 0.00007
NM_017415.3(KLHL3):c.*2886A>G rs1027988431 0.00006
NM_017415.3(KLHL3):c.*4185G>A rs914974414 0.00006
NM_017415.3(KLHL3):c.*4080C>T rs998471655 0.00005
NM_017415.3(KLHL3):c.*953A>G rs925746719 0.00005
NM_017415.3(KLHL3):c.*1128A>C rs962095157 0.00004
NM_017415.3(KLHL3):c.*2156A>G rs886059947 0.00004
NM_017415.3(KLHL3):c.*2692C>T rs919793461 0.00004
NM_017415.3(KLHL3):c.*4364A>G rs886059935 0.00004
NM_017415.3(KLHL3):c.*2991T>C rs767931459 0.00003
NM_017415.3(KLHL3):c.*3920T>G rs886059936 0.00003
NM_017415.3(KLHL3):c.1421C>T (p.Ala474Val) rs200144703 0.00003
NM_017415.3(KLHL3):c.*1651C>T rs577834025 0.00002
NM_017415.3(KLHL3):c.*174C>G rs1378746793 0.00002
NM_017415.3(KLHL3):c.*2647C>T rs938695444 0.00002
NM_017415.3(KLHL3):c.*501T>C rs886059955 0.00002
NM_017415.3(KLHL3):c.*1034C>T rs886059951 0.00001
NM_017415.3(KLHL3):c.*1124T>C rs1282412666 0.00001
NM_017415.3(KLHL3):c.*1434T>G rs886059949 0.00001
NM_017415.3(KLHL3):c.*1919C>A rs1161753727 0.00001
NM_017415.3(KLHL3):c.*2448C>T rs886059945 0.00001
NM_017415.3(KLHL3):c.*3913A>T rs529462576 0.00001
NM_017415.3(KLHL3):c.1118A>G (p.Gln373Arg) rs766825906 0.00001
NM_017415.3(KLHL3):c.1289G>A (p.Arg430Gln) rs973800786 0.00001
NM_017415.3(KLHL3):c.1603G>A (p.Val535Ile) rs749298481 0.00001
NM_017415.3(KLHL3):c.420T>C (p.Cys140=) rs1012577761 0.00001
NM_017415.3(KLHL3):c.*149G>A rs886059957
NM_017415.3(KLHL3):c.*1846C>A rs1756356732
NM_017415.3(KLHL3):c.*2168T>C rs886059946
NM_017415.3(KLHL3):c.*2472A>C rs886059944
NM_017415.3(KLHL3):c.*3206A>T rs1425878478
NM_017415.3(KLHL3):c.*3410T>G rs1031836495
NM_017415.3(KLHL3):c.*3473T>C rs886059937
NM_017415.3(KLHL3):c.*4202G>C rs935025525
NM_017415.3(KLHL3):c.*481G>A rs886059956
NM_017415.3(KLHL3):c.*539G>A rs886059954
NM_017415.3(KLHL3):c.*681C>T rs1750293151
NM_017415.3(KLHL3):c.*748T>C rs886059952
NM_017415.3(KLHL3):c.-170T>C rs886059960
NM_017415.3(KLHL3):c.-352G>A rs886059963
NM_017415.3(KLHL3):c.14+11A>T rs886059959
NM_017415.3(KLHL3):c.1570A>C (p.Asn524His) rs1750534995
NM_017415.3(KLHL3):c.1725G>A (p.Arg575=) rs1750443613
NM_017415.3(KLHL3):c.406C>T (p.Arg136Trp) rs1752345984
NM_017415.3(KLHL3):c.730T>C (p.Leu244=) rs1561595683
NM_017415.3(KLHL3):c.770C>G (p.Ala257Gly) rs886059958

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.