ClinVar Miner

List of variants reported as uncertain significance for autosomal dominant pseudohypoaldosteronism type 1 by Illumina Laboratory Services, Illumina

Included ClinVar conditions (2):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 150
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HGVS dbSNP gnomAD frequency
NM_017415.3(KLHL3):c.*3204A>T rs4835684 0.35371
NM_003590.5(CUL3):c.*3665T>A rs374191606 0.00230
NM_017415.3(KLHL3):c.*1657G>A rs375193765 0.00223
NM_000901.5(NR3C2):c.*804G>T rs72648707 0.00209
NM_000901.5(NR3C2):c.*1493del rs533687617 0.00153
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.*790G>A rs572765305 0.00044
NM_000901.5(NR3C2):c.-228T>C rs553066220 0.00039
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_017415.3(KLHL3):c.-337A>G rs886059961 0.00031
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_017415.3(KLHL3):c.*4257A>G rs768556632 0.00022
NM_000901.5(NR3C2):c.*2289T>G rs752375846 0.00020
NM_003590.5(CUL3):c.*1506G>A rs886055691 0.00019
NM_017415.3(KLHL3):c.*141C>T rs189064290 0.00019
NM_000901.5(NR3C2):c.*1774A>G rs377659495 0.00016
NM_017415.3(KLHL3):c.*1055A>G rs886059950 0.00016
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_000901.5(NR3C2):c.*1475T>G rs886059123 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_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.*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_003590.5(CUL3):c.*2469G>C rs886055686 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.*501T>C rs886059955 0.00002
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.-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.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_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_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.*1797A>G rs1730444075
NM_000901.5(NR3C2):c.*1905_*1907dup rs886059120
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.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.2102C>G (p.Pro701Arg) rs754694314
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_003590.5(CUL3):c.*1451AAC[1] rs756120079
NM_003590.5(CUL3):c.*1498C>G rs886055692
NM_003590.5(CUL3):c.*1518A>T rs886055690
NM_003590.5(CUL3):c.*2037del rs770315174
NM_003590.5(CUL3):c.*207G>A rs886055694
NM_003590.5(CUL3):c.*2424C>T rs886055687
NM_003590.5(CUL3):c.*2584T>C rs886055685
NM_003590.5(CUL3):c.*2946_*2949del rs886055682
NM_003590.5(CUL3):c.*3096G>C rs886055681
NM_003590.5(CUL3):c.*3785dup rs886055678
NM_003590.5(CUL3):c.*545A>G rs886055693
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.*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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