ClinVar Miner

List of variants in gene NR3C2 reported as pathogenic for abdominal and pelvic region disorder

Included ClinVar conditions (956):
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Gene type:
ClinVar version:
Total variants: 20
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HGVS dbSNP
NM_000901.5(NR3C2):c.1131dup (p.Glu378Ter) rs1560735659
NM_000901.5(NR3C2):c.1308T>A (p.Cys436Ter) rs121912570
NM_000901.5(NR3C2):c.1409C>A (p.Ser470Ter) rs879255348
NM_000901.5(NR3C2):c.1609C>T (p.Arg537Ter) rs121912562
NM_000901.5(NR3C2):c.1897G>A (p.Gly633Arg) rs121912566
NM_000901.5(NR3C2):c.1935C>A (p.Cys645Ter) rs121912564
NM_000901.5(NR3C2):c.2017C>T (p.Arg673Ter) rs121912571
NM_000901.5(NR3C2):c.2024C>G (p.Ser675Ter) rs121912572
NM_000901.5(NR3C2):c.2327A>G (p.Gln776Arg) rs121912565
NM_000901.5(NR3C2):c.2365+3del rs1560949756
NM_000901.5(NR3C2):c.2453C>T (p.Ser818Leu) rs121912573
NM_000901.5(NR3C2):c.2771T>C (p.Leu924Pro) rs121912563
NM_000901.5(NR3C2):c.2839C>T (p.Arg947Ter) rs121912569
NM_000901.5(NR3C2):c.2871dup (p.Ala958fs) rs1560910156
NM_000901.5(NR3C2):c.2915A>G (p.Glu972Gly) rs121912574
NM_000901.5(NR3C2):c.2936T>C (p.Leu979Pro) rs121912567
NM_000901.5(NR3C2):c.488C>G (p.Ser163Ter) rs121912568
NR3C2, 1-BP DEL, 1226G
NR3C2, 1-BP DEL, 1597T
NR3C2, 8-BP DEL, NT537

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