ClinVar Miner

List of variants in gene NR3C2 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: 65
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HGVS dbSNP gnomAD frequency
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_000901.5(NR3C2):c.*1206G>C rs557553789 0.00025
NM_000901.5(NR3C2):c.*2289T>G rs752375846 0.00020
NM_000901.5(NR3C2):c.*1774A>G rs377659495 0.00016
NM_000901.5(NR3C2):c.*2368C>A rs886059117 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_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.*1019C>G rs987993546 0.00005
NM_000901.5(NR3C2):c.*325G>A rs201950852 0.00005
NM_000901.5(NR3C2):c.1172A>G (p.Gln391Arg) rs569010694 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.*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.*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_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.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_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.-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.56G>A (p.Trp19Ter) rs1553943428
NM_000901.5(NR3C2):c.822C>A (p.Ser274Arg) rs186788495
NM_000901.5(NR3C2):c.934A>G (p.Ser312Gly) rs1750038176

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