ClinVar Miner

List of variants studied for Autosomal dominant pseudohypoaldosteronism type 1 by Illumina Laboratory Services, Illumina

Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 296
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HGVS dbSNP gnomAD frequency
NM_003590.5(CUL3):c.*3789C>T rs4234054 0.99420
NM_000901.5(NR3C2):c.1497T>C (p.Asp499=) rs5525 0.88975
NM_000901.5(NR3C2):c.538G>A (p.Val180Ile) rs5522 0.88922
NM_017415.3(KLHL3):c.471A>G (p.Ala157=) rs2905608 0.78307
NM_000901.5(NR3C2):c.*2471G>A rs2871 0.67142
NM_017415.3(KLHL3):c.*3068A>G rs3813314 0.65518
NM_017415.3(KLHL3):c.*4210A>G rs6863414 0.65359
NM_003590.5(CUL3):c.*3367T>C rs4674908 0.48773
NM_000901.5(NR3C2):c.*1410A>G rs5534 0.48561
NM_017415.3(KLHL3):c.*2926T>C rs3813315 0.43732
NM_017415.3(KLHL3):c.*1310C>T rs2057680 0.43675
NM_000901.5(NR3C2):c.-2C>G rs2070951 0.43083
NM_017415.3(KLHL3):c.*3204A>T rs4835684 0.35371
NM_003590.5(CUL3):c.*3991A>G rs12470077 0.29898
NM_003590.5(CUL3):c.*3148A>G rs17479770 0.24341
NM_017415.3(KLHL3):c.*2080A>C rs3813318 0.18814
NM_003590.5(CUL3):c.1485+13G>A rs3754629 0.18293
NM_003590.5(CUL3):c.*2192T>C rs3768898 0.18207
NM_003590.5(CUL3):c.1992A>G (p.Gln664=) rs2070127 0.18190
NM_003590.5(CUL3):c.*2431G>T rs10498160 0.18184
NM_003590.5(CUL3):c.*2073A>G rs10498161 0.18179
NM_003590.5(CUL3):c.*2653G>A rs3768899 0.18168
NM_003590.5(CUL3):c.*3672T>C rs2396092 0.18136
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_000901.5(NR3C2):c.*1032G>A rs61763141 0.08483
NM_003590.5(CUL3):c.1699G>A (p.Val567Ile) rs3738952 0.08330
NM_003590.5(CUL3):c.*1774G>T rs13016316 0.08321
NM_000901.5(NR3C2):c.1713T>C (p.Ser571=) rs5529 0.08104
NM_017415.3(KLHL3):c.*2404C>A rs3813316 0.05943
NM_003590.5(CUL3):c.*2193G>A rs73993899 0.05780
NM_017415.3(KLHL3):c.1611G>T (p.Gly537=) rs17171525 0.03678
NM_000901.5(NR3C2):c.*1802G>A rs5536 0.02588
NM_003590.5(CUL3):c.*3531_*3532del rs10612010 0.01684
NM_000901.5(NR3C2):c.*412C>T rs17024360 0.01650
NM_003590.5(CUL3):c.*3156A>G rs78383940 0.01631
NM_003590.5(CUL3):c.1581A>T (p.Ala527=) rs41373148 0.01485
NM_003590.5(CUL3):c.2052C>T (p.Ser684=) rs61743301 0.01372
NM_000901.5(NR3C2):c.*86T>C rs5530 0.01313
NM_000901.5(NR3C2):c.1092G>A (p.Thr364=) rs61729559 0.00919
NM_017415.3(KLHL3):c.*1451A>G rs149596381 0.00913
NM_000901.5(NR3C2):c.2139T>C (p.Pro713=) rs151096115 0.00862
NM_000901.5(NR3C2):c.-8A>T rs61760021 0.00826
NM_003590.5(CUL3):c.*1872G>C rs140669610 0.00756
NM_000901.5(NR3C2):c.1331A>C (p.Asn444Thr) rs5523 0.00741
NM_000901.5(NR3C2):c.1689C>T (p.His563=) rs5528 0.00650
NM_000901.5(NR3C2):c.*1121T>C rs114071155 0.00625
NM_000901.5(NR3C2):c.*1508A>G rs5535 0.00623
NM_000901.5(NR3C2):c.*755A>C rs5532 0.00590
NM_017415.3(KLHL3):c.*1896T>G rs75344015 0.00578
NM_003590.5(CUL3):c.*3463T>C rs76433087 0.00570
NM_003590.5(CUL3):c.*2923A>C rs73077720 0.00490
NM_000901.5(NR3C2):c.2178G>A (p.Gln726=) rs144234574 0.00484
NM_000901.5(NR3C2):c.*1209G>A rs118144639 0.00443
NM_003590.5(CUL3):c.*2945G>C rs41529948 0.00430
NM_001001433.3(STX16):c.*651_*653dup rs566135029 0.00368
NM_000901.5(NR3C2):c.1791A>G (p.Ser597=) rs34905604 0.00366
NM_000901.5(NR3C2):c.1661A>G (p.Asn554Ser) rs5527 0.00327
NM_003590.5(CUL3):c.*3665T>A rs374191606 0.00230
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_000901.5(NR3C2):c.*2065A>C rs72647600 0.00210
NM_000901.5(NR3C2):c.*804G>T rs72648707 0.00209
NM_000901.5(NR3C2):c.*1165C>T rs5533 0.00203
NM_000901.5(NR3C2):c.-3+10G>A rs72646913 0.00200
NM_017415.3(KLHL3):c.*3128C>G rs147801381 0.00197
NM_017415.3(KLHL3):c.*4065C>T rs142781557 0.00196
NM_000901.4(NR3C2):c.-275C>T rs61760022 0.00187
NM_003590.5(CUL3):c.2029+14T>C rs201363693 0.00183
NM_003590.5(CUL3):c.*2130A>G rs555995940 0.00154
NM_000901.5(NR3C2):c.*1491G>A rs527827388 0.00153
NM_000901.5(NR3C2):c.*1493del rs533687617 0.00153
NM_003590.5(CUL3):c.*2912T>C rs567860520 0.00149
NM_000901.5(NR3C2):c.*890T>G rs72648706 0.00148
NM_000901.5(NR3C2):c.*1452C>T rs181282602 0.00145
NM_000901.5(NR3C2):c.-213G>A rs571381864 0.00141
NM_017415.3(KLHL3):c.-256T>A rs182320171 0.00140
NM_003590.5(CUL3):c.*2272T>C rs556914502 0.00132
NM_000901.5(NR3C2):c.*2388T>C rs5537 0.00127
NM_000901.5(NR3C2):c.767A>G (p.Asn256Ser) rs72645685 0.00108
NM_003590.5(CUL3):c.*1403A>C rs575153722 0.00108
NM_000901.5(NR3C2):c.2312G>A (p.Arg771His) rs143057152 0.00103
NM_017415.3(KLHL3):c.838C>T (p.Leu280=) rs138650966 0.00095
NM_000901.5(NR3C2):c.*1352G>A rs186795361 0.00086
NM_017415.3(KLHL3):c.*108G>A rs147305829 0.00076
NM_003590.5(CUL3):c.*3753T>C rs558805673 0.00068
NM_003590.5(CUL3):c.*294A>G rs532967850 0.00067
NM_000901.5(NR3C2):c.*2410T>C rs186309103 0.00066
NM_003590.5(CUL3):c.883+13G>C rs147823056 0.00061
NM_003590.5(CUL3):c.*896G>C rs141660429 0.00060
NM_000901.5(NR3C2):c.*379G>A rs530957356 0.00058
NM_017415.3(KLHL3):c.*4356G>T rs757402685 0.00047
NM_000901.4(NR3C2):c.-348C>G rs749300160 0.00044
NM_017415.3(KLHL3):c.*2360G>A rs533076689 0.00044
NM_017415.3(KLHL3):c.*790G>A rs572765305 0.00044
NM_000901.5(NR3C2):c.2578G>A (p.Val860Ile) rs147398624 0.00043
NM_000901.5(NR3C2):c.-228T>C rs553066220 0.00039
NM_003590.5(CUL3):c.264+9C>T rs200018000 0.00039
NM_017415.3(KLHL3):c.-275G>C rs189053795 0.00035
NM_003590.5(CUL3):c.*3026G>A rs748865811 0.00034
NM_017415.3(KLHL3):c.*2763C>T rs550345984 0.00034
NM_017415.3(KLHL3):c.756G>A (p.Thr252=) rs143617205 0.00032
NM_000901.5(NR3C2):c.1398T>C (p.Tyr466=) rs5524 0.00031
NM_017415.3(KLHL3):c.-337A>G rs886059961 0.00031
NM_017415.3(KLHL3):c.*4006C>T rs150624383 0.00029
NM_000901.5(NR3C2):c.*1206G>C rs557553789 0.00025
NM_017415.3(KLHL3):c.*1916G>A rs534983852 0.00024
NM_017415.3(KLHL3):c.-344G>T rs886059962 0.00023
NM_003590.5(CUL3):c.*89A>T rs192166927 0.00022
NM_017415.3(KLHL3):c.*4257A>G rs768556632 0.00022
NM_000901.5(NR3C2):c.*2289T>G rs752375846 0.00020
NM_000901.5(NR3C2):c.1380T>A (p.Phe460Leu) rs149589666 0.00019
NM_001001433.3(STX16):c.*1725A>T rs545095749 0.00019
NM_003590.5(CUL3):c.*1506G>A rs886055691 0.00019
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_000901.5(NR3C2):c.*1774A>G rs377659495 0.00016
NM_017415.3(KLHL3):c.*1055A>G rs886059950 0.00016
NM_017415.3(KLHL3):c.1401C>A (p.Thr467=) rs35420153 0.00016
NM_000901.5(NR3C2):c.1705A>G (p.Arg569Gly) rs61759976 0.00015
NM_017415.3(KLHL3):c.*4066C>T rs544519958 0.00015
NM_000901.5(NR3C2):c.103G>C (p.Glu35Gln) rs141860706 0.00014
NM_017415.3(KLHL3):c.*2485T>G rs573842978 0.00014
NM_017415.3(KLHL3):c.1321+10C>T rs145091610 0.00014
NM_000901.5(NR3C2):c.*2368C>A rs886059117 0.00013
NM_003590.5(CUL3):c.*2766G>C rs747359530 0.00013
NM_003590.5(CUL3):c.*4088T>C rs556849083 0.00013
NM_017415.3(KLHL3):c.-402C>T rs774532097 0.00013
NM_000901.5(NR3C2):c.*356A>G rs548954265 0.00012
NM_000901.5(NR3C2):c.*6C>T rs373627783 0.00011
NM_003590.5(CUL3):c.693A>C (p.Ser231=) rs181190157 0.00011
NM_017415.3(KLHL3):c.*299G>A rs539132895 0.00011
NM_017415.3(KLHL3):c.*2687C>T rs186283051 0.00010
NM_000901.5(NR3C2):c.*1475T>G rs886059123 0.00009
NM_000901.5(NR3C2):c.1757+6T>C rs184268528 0.00009
NM_000901.5(NR3C2):c.2087C>T (p.Pro696Leu) rs368322580 0.00009
NM_017415.3(KLHL3):c.*2023G>C rs886059948 0.00008
NM_017415.3(KLHL3):c.*3271A>G rs886059940 0.00007
NM_000901.5(NR3C2):c.*1307C>G rs886059125 0.00006
NM_000901.5(NR3C2):c.*1365G>A rs550508714 0.00006
NM_000901.5(NR3C2):c.*1406A>T rs61763137 0.00006
NM_000901.5(NR3C2):c.*1493C>T rs886059122 0.00006
NM_000901.5(NR3C2):c.-111C>T rs886059132 0.00006
NM_000901.5(NR3C2):c.1272A>G (p.Ser424=) rs368453653 0.00006
NM_000901.5(NR3C2):c.2334C>T (p.Ile778=) rs747663972 0.00006
NM_000901.5(NR3C2):c.534C>T (p.Arg178=) rs201996429 0.00006
NM_003590.5(CUL3):c.*2195A>G rs886055688 0.00006
NM_003590.5(CUL3):c.*2756G>A rs886055684 0.00006
NM_000901.5(NR3C2):c.*1019C>G rs987993546 0.00005
NM_000901.5(NR3C2):c.*325G>A rs201950852 0.00005
NM_000901.5(NR3C2):c.449G>A (p.Arg150His) rs13306591 0.00005
NM_000901.5(NR3C2):c.*1088C>T rs750409888 0.00004
NM_000901.5(NR3C2):c.*1110C>G rs765227272 0.00004
NM_000901.5(NR3C2):c.*2354T>C rs886059118 0.00004
NM_000901.5(NR3C2):c.2412T>C (p.Tyr804=) rs548602386 0.00004
NM_000901.5(NR3C2):c.2871C>T (p.Pro957=) rs535338611 0.00004
NM_000901.5(NR3C2):c.405G>C (p.Gln135His) rs138893620 0.00004
NM_003590.5(CUL3):c.*2469G>C rs886055686 0.00004
NM_003590.5(CUL3):c.*2863T>G rs536790634 0.00004
NM_003590.5(CUL3):c.*3392A>G rs886055680 0.00004
NM_017415.3(KLHL3):c.*2156A>G rs886059947 0.00004
NM_017415.3(KLHL3):c.*4364A>G rs886059935 0.00004
NM_000901.5(NR3C2):c.*1327C>A rs879593672 0.00003
NM_000901.5(NR3C2):c.*1758A>G rs886059121 0.00003
NM_000901.5(NR3C2):c.*592G>A rs751325270 0.00003
NM_000901.5(NR3C2):c.-249C>T rs886059133 0.00003
NM_003590.5(CUL3):c.*2854A>G rs772430576 0.00003
NM_003590.5(CUL3):c.*2868T>C rs886055683 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_000901.5(NR3C2):c.*519G>A rs766404000 0.00002
NM_000901.5(NR3C2):c.100A>G (p.Thr34Ala) rs760623537 0.00002
NM_000901.5(NR3C2):c.1090A>T (p.Thr364Ser) rs558132922 0.00002
NM_000901.5(NR3C2):c.334G>C (p.Val112Leu) rs1330903694 0.00002
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_000901.4(NR3C2):c.*2581C>T rs146849424 0.00001
NM_000901.5(NR3C2):c.*1471A>G rs1423652712 0.00001
NM_000901.5(NR3C2):c.*2384T>C rs1171005656 0.00001
NM_000901.5(NR3C2):c.*586G>A rs552553946 0.00001
NM_000901.5(NR3C2):c.*7G>A rs772531453 0.00001
NM_000901.5(NR3C2):c.-238C>T rs1228027123 0.00001
NM_000901.5(NR3C2):c.1513G>A (p.Glu505Lys) rs774066754 0.00001
NM_000901.5(NR3C2):c.218G>A (p.Cys73Tyr) rs776685641 0.00001
NM_000901.5(NR3C2):c.739A>T (p.Arg247Trp) rs149902988 0.00001
NM_000901.5(NR3C2):c.747C>T (p.His249=) rs886059130 0.00001
NM_003590.5(CUL3):c.*2093A>G rs886055689 0.00001
NM_003590.5(CUL3):c.*3766G>A rs886055679 0.00001
NM_003590.5(CUL3):c.*905A>G rs764172604 0.00001
NM_003590.5(CUL3):c.600C>G (p.Val200=) rs561338665 0.00001
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_000901.4(NR3C2):c.-281_-276CCCTGC[2] rs540712695
NM_000901.4(NR3C2):c.-328C>T rs886059134
NM_000901.5(NR3C2):c.*1032G>C rs61763141
NM_000901.5(NR3C2):c.*124G>C rs1730537936
NM_000901.5(NR3C2):c.*1290G>A rs773710218
NM_000901.5(NR3C2):c.*1465G>A rs886059124
NM_000901.5(NR3C2):c.*1541_*1544dup rs140789678
NM_000901.5(NR3C2):c.*1667TTTG[1] rs146592484
NM_000901.5(NR3C2):c.*1726_*1729dup rs199601327
NM_000901.5(NR3C2):c.*1797A>G rs1730444075
NM_000901.5(NR3C2):c.*1836ATTA[1] rs570043057
NM_000901.5(NR3C2):c.*1905_*1907dup rs886059120
NM_000901.5(NR3C2):c.*2088G>A rs145711262
NM_000901.5(NR3C2):c.*2296T>C rs1167354543
NM_000901.5(NR3C2):c.*2345T>C rs886059119
NM_000901.5(NR3C2):c.*2578T>G rs1730405375
NM_000901.5(NR3C2):c.*324C>T rs886059128
NM_000901.5(NR3C2):c.*416T>C rs886059127
NM_000901.5(NR3C2):c.*442_*444del rs769087750
NM_000901.5(NR3C2):c.*474_*475insTAA rs886059126
NM_000901.5(NR3C2):c.*813G>A rs1347200463
NM_000901.5(NR3C2):c.*90A>G rs1730539707
NM_000901.5(NR3C2):c.*924C>T rs941511610
NM_000901.5(NR3C2):c.-14C>G rs886059131
NM_000901.5(NR3C2):c.-243G>T rs1750392355
NM_000901.5(NR3C2):c.-5C>A rs1750377090
NM_000901.5(NR3C2):c.1055C>A (p.Ser352Tyr) rs746247810
NM_000901.5(NR3C2):c.1350del (p.Pro451fs)
NM_000901.5(NR3C2):c.1559G>T (p.Gly520Val) rs754916440
NM_000901.5(NR3C2):c.1686A>C (p.Ser562=) rs1456002649
NM_000901.5(NR3C2):c.2055C>A (p.His685Gln) rs772344575
NM_000901.5(NR3C2):c.2091A>C (p.Pro697=) rs748615309
NM_000901.5(NR3C2):c.2097A>C (p.Pro699=) rs780645360
NM_000901.5(NR3C2):c.2102C>G (p.Pro701Arg) rs754694314
NM_000901.5(NR3C2):c.2126C>T (p.Thr709Met) rs139938639
NM_000901.5(NR3C2):c.215C>G (p.Pro72Arg) rs1750090601
NM_000901.5(NR3C2):c.2745G>A (p.Gly915=) rs1732169191
NM_000901.5(NR3C2):c.2809G>A (p.Asp937Asn) rs886059129
NM_000901.5(NR3C2):c.2840G>C (p.Arg947Pro) rs1730554872
NM_000901.5(NR3C2):c.822C>A (p.Ser274Arg) rs186788495
NM_000901.5(NR3C2):c.934A>G (p.Ser312Gly) rs1750038176
NM_001001433.3(STX16):c.*2347_*2348insAAA rs761666161
NM_001001433.3(STX16):c.*2348del rs886056863
NM_001001433.3(STX16):c.*2363_*2366dup rs10695175
NM_001001433.3(STX16):c.*2364_*2366dup rs10695175
NM_001001433.3(STX16):c.*2496del rs886056865
NM_001001433.3(STX16):c.*3175_*3176del rs35295928
NM_003590.5(CUL3):c.*1245_*1249del rs144788294
NM_003590.5(CUL3):c.*1451AAC[1] rs756120079
NM_003590.5(CUL3):c.*1483C>G rs79297951
NM_003590.5(CUL3):c.*1498C>G rs886055692
NM_003590.5(CUL3):c.*1518A>T rs886055690
NM_003590.5(CUL3):c.*1934_*1937del rs533374759
NM_003590.5(CUL3):c.*2037del rs770315174
NM_003590.5(CUL3):c.*207G>A rs886055694
NM_003590.5(CUL3):c.*2117dup rs572505388
NM_003590.5(CUL3):c.*2424C>T rs886055687
NM_003590.5(CUL3):c.*2584T>C rs886055685
NM_003590.5(CUL3):c.*265_*269del rs527449132
NM_003590.5(CUL3):c.*2946_*2949del rs886055682
NM_003590.5(CUL3):c.*3096G>C rs886055681
NM_003590.5(CUL3):c.*3736del rs5839066
NM_003590.5(CUL3):c.*3785dup rs886055678
NM_003590.5(CUL3):c.*545A>G rs886055693
NM_003590.5(CUL3):c.*940C>T rs3768897
NM_003590.5(CUL3):c.1708-14del rs777017393
NM_003590.5(CUL3):c.2102A>T (p.His701Leu) rs886055695
NM_003590.5(CUL3):c.304C>A (p.Leu102Ile) rs886055697
NM_003590.5(CUL3):c.310A>T (p.Thr104Ser) rs886055696
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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