ClinVar Miner

List of variants in gene KLHL3 reported as uncertain significance for autosomal dominant pseudohypoaldosteronism type 1

Included ClinVar conditions (2):
Minimum submission review status: Collection method:
Minimum conflict level:
Gene type:
ClinVar version:
Total variants: 48
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HGVS dbSNP gnomAD frequency
NM_017415.3(KLHL3):c.*3204A>T rs4835684 0.35371
NM_017415.3(KLHL3):c.*1657G>A rs375193765 0.00223
NM_017415.3(KLHL3):c.*4356G>T rs757402685 0.00047
NM_017415.3(KLHL3):c.*790G>A rs572765305 0.00044
NM_017415.3(KLHL3):c.*2763C>T rs550345984 0.00034
NM_017415.3(KLHL3):c.756G>A (p.Thr252=) rs143617205 0.00032
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.*141C>T rs189064290 0.00019
NM_017415.3(KLHL3):c.*1055A>G rs886059950 0.00016
NM_017415.3(KLHL3):c.-402C>T rs774532097 0.00013
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.*2156A>G rs886059947 0.00004
NM_017415.3(KLHL3):c.*4364A>G rs886059935 0.00004
NM_017415.3(KLHL3):c.*3920T>G rs886059936 0.00003
NM_017415.3(KLHL3):c.*39G>A rs762735618 0.00003
NM_017415.3(KLHL3):c.1421C>T (p.Ala474Val) rs200144703 0.00003
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.*1434T>G rs886059949 0.00001
NM_017415.3(KLHL3):c.*1583C>T rs554048189 0.00001
NM_017415.3(KLHL3):c.*2448C>T rs886059945 0.00001
NM_017415.3(KLHL3):c.1118A>G (p.Gln373Arg) rs766825906 0.00001
NM_017415.3(KLHL3):c.*149G>A rs886059957
NM_017415.3(KLHL3):c.*2168T>C rs886059946
NM_017415.3(KLHL3):c.*2472A>C rs886059944
NM_017415.3(KLHL3):c.*295GT[11] rs3839339
NM_017415.3(KLHL3):c.*295GT[12] rs3839339
NM_017415.3(KLHL3):c.*3203_*3205del rs886059943
NM_017415.3(KLHL3):c.*3204_*3205insT rs774186035
NM_017415.3(KLHL3):c.*3205_*3206insTT rs147517371
NM_017415.3(KLHL3):c.*3207_*3208del rs369833337
NM_017415.3(KLHL3):c.*3208del rs369833337
NM_017415.3(KLHL3):c.*3209dup rs886059941
NM_017415.3(KLHL3):c.*3339_*3340insT rs886059939
NM_017415.3(KLHL3):c.*3341del rs886059938
NM_017415.3(KLHL3):c.*3473T>C rs886059937
NM_017415.3(KLHL3):c.*481G>A rs886059956
NM_017415.3(KLHL3):c.*539G>A rs886059954
NM_017415.3(KLHL3):c.*591_*594del rs886059953
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.770C>G (p.Ala257Gly) rs886059958

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