ClinVar Miner

List of variants reported as likely pathogenic for adrenal gland disease by Soonchunhyang University Bucheon Hospital,Soonchunhyang University Medical Center

Included ClinVar conditions (122):
Minimum submission review status: Collection method:
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ClinVar version:
Total variants: 7
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HGVS dbSNP
NM_000500.7(CYP21A2):c.1174G>A (p.Ala392Thr) rs202242769
NM_000546.5(TP53):c.91G>A (p.Val31Ile) rs201753350
NM_000941.2(POR):c.1370G>A (p.Arg457His) rs28931608
NM_001077196.1(PDE11A):c.479C>G (p.Ser160Ter) rs771254375
NM_001077196.1(PDE11A):c.936_940delGTCCT (p.Ser313Glnfs) rs769235876
NM_001077197.1(PDE11A):c.20_21delGA (p.Arg7Thrfs) rs202117698
NM_001077197.1(PDE11A):c.235C>T (p.Arg79Ter) rs188985665

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