ClinVar Miner

List of variants in gene KLHL3 studied for Autosomal dominant pseudohypoaldosteronism type 1

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Gene type:
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Total variants: 86
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HGVS dbSNP gnomAD frequency
NM_017415.3(KLHL3):c.471A>G (p.Ala157=) rs2905608 0.78307
NM_017415.3(KLHL3):c.*3068A>G rs3813314 0.65518
NM_017415.3(KLHL3):c.*4210A>G rs6863414 0.65359
NM_017415.3(KLHL3):c.*2926T>C rs3813315 0.43732
NM_017415.3(KLHL3):c.*1310C>T rs2057680 0.43675
NM_017415.3(KLHL3):c.*3204A>T rs4835684 0.35371
NM_017415.3(KLHL3):c.*2080A>C rs3813318 0.18814
NM_017415.3(KLHL3):c.1383G>A (p.Glu461=) rs2301708 0.17239
NM_017415.3(KLHL3):c.*1104G>A rs7444370 0.10673
NM_017415.3(KLHL3):c.*3205A>T rs35251512 0.09053
NM_017415.3(KLHL3):c.*2404C>A rs3813316 0.05943
NM_017415.3(KLHL3):c.1611G>T (p.Gly537=) rs17171525 0.03678
NM_017415.3(KLHL3):c.*1451A>G rs149596381 0.00913
NM_017415.3(KLHL3):c.*1896T>G rs75344015 0.00578
NM_017415.3(KLHL3):c.*1106G>T rs141393967 0.00223
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.*2267T>A rs140696146 0.00215
NM_017415.3(KLHL3):c.*3128C>G rs147801381 0.00197
NM_017415.3(KLHL3):c.*4065C>T rs142781557 0.00196
NM_017415.3(KLHL3):c.-256T>A rs182320171 0.00140
NM_017415.3(KLHL3):c.838C>T (p.Leu280=) rs138650966 0.00095
NM_017415.3(KLHL3):c.*108G>A rs147305829 0.00076
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.*790G>A rs572765305 0.00044
NM_017415.3(KLHL3):c.-275G>C rs189053795 0.00035
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.*4006C>T rs150624383 0.00029
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.*2248C>T rs3813317 0.00019
NM_017415.3(KLHL3):c.*224G>T rs536807069 0.00019
NM_017415.3(KLHL3):c.904-5C>T rs375172469 0.00019
NM_017415.3(KLHL3):c.*1055A>G rs886059950 0.00016
NM_017415.3(KLHL3):c.1401C>A (p.Thr467=) rs35420153 0.00016
NM_017415.3(KLHL3):c.*4066C>T rs544519958 0.00015
NM_017415.3(KLHL3):c.*2485T>G rs573842978 0.00014
NM_017415.3(KLHL3):c.1321+10C>T rs145091610 0.00014
NM_017415.3(KLHL3):c.-402C>T rs774532097 0.00013
NM_017415.3(KLHL3):c.*299G>A rs539132895 0.00011
NM_017415.3(KLHL3):c.*2687C>T rs186283051 0.00010
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.*1651C>T rs577834025 0.00002
NM_017415.3(KLHL3):c.*501T>C rs886059955 0.00002
NM_017415.3(KLHL3):c.1021+5G>A rs183499982 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.*2805A>G rs141261117 0.00001
NM_017415.3(KLHL3):c.1118A>G (p.Gln373Arg) rs766825906 0.00001
NM_017415.3(KLHL3):c.1518C>T (p.Ser506=) rs529937913 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.*3338del rs58917494
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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