ClinVar Miner

List of variants in gene KLHL3 studied for Pseudohypoaldosteronism type 2D

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Total variants: 139
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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.526+21T>A rs2301710 0.77798
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.904-21C>T rs2074348 0.35553
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.*3698G>A rs60066928 0.00785
NM_017415.3(KLHL3):c.*1896T>G rs75344015 0.00578
NM_017415.3(KLHL3):c.-286C>G rs140523800 0.00227
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.*4421C>T rs185010344 0.00190
NM_017415.3(KLHL3):c.627A>G (p.Ser209=) rs143713380 0.00176
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.-375C>T rs142791401 0.00084
NM_017415.3(KLHL3):c.*108G>A rs147305829 0.00076
NM_017415.3(KLHL3):c.1327C>T (p.Leu443=) rs139150347 0.00049
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.*2088C>T rs182886272 0.00031
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.*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.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.*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.606C>T (p.Ser202=) rs151050480 0.00011
NM_017415.3(KLHL3):c.*2687C>T rs186283051 0.00010
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.1220-12C>T rs377696339 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.153C>T (p.Asp51=) rs573882707 0.00004
NM_017415.3(KLHL3):c.1694C>T (p.Thr565Met) rs375871642 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.*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.*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.1021+5G>A rs183499982 0.00002
NM_017415.3(KLHL3):c.526+14G>A rs762458304 0.00002
NM_017415.3(KLHL3):c.966C>T (p.Phe322=) rs750511635 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.*1583C>T rs554048189 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.*2805A>G rs141261117 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.1277C>T (p.Pro426Leu) rs387907156 0.00001
NM_017415.3(KLHL3):c.1289G>A (p.Arg430Gln) rs973800786 0.00001
NM_017415.3(KLHL3):c.1518C>T (p.Ser506=) rs529937913 0.00001
NM_017415.3(KLHL3):c.1603G>A (p.Val535Ile) rs749298481 0.00001
NM_017415.3(KLHL3):c.1670A>G (p.Tyr557Cys) rs199469645 0.00001
NM_017415.3(KLHL3):c.420T>C (p.Cys140=) rs1012577761 0.00001
NM_017415.3(KLHL3):c.718C>T (p.Arg240Ter) rs199469638 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.*3244G>T rs145507791
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.1000C>T (p.Pro334Ser) rs2149885426
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.1084C>T (p.Arg362Trp)
NM_017415.3(KLHL3):c.1160T>C (p.Leu387Pro) rs199469630
NM_017415.3(KLHL3):c.1193C>T (p.Ala398Val) rs387907155
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.14+11A>T rs886059959
NM_017415.3(KLHL3):c.1410G>A (p.Trp470Ter) rs199469644
NM_017415.3(KLHL3):c.1519G>A (p.Val507Ile) rs863225302
NM_017415.3(KLHL3):c.1570A>C (p.Asn524His) rs1750534995
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.1587C>A (p.Asn529Lys) rs562736621
NM_017415.3(KLHL3):c.1654G>T (p.Ala552Ser) rs2149876263
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
NM_017415.3(KLHL3):c.965T>G (p.Phe322Cys) rs199469639
NM_017415.3(KLHL3):c.977G>A (p.Arg326Gln)

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