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 (131):
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ClinVar version:
Total variants: 7
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NM_000500.9(CYP21A2):c.1174G>A (p.Ala392Thr) rs202242769
NM_000546.6(TP53):c.91G>A (p.Val31Ile) rs201753350
NM_000941.3(POR):c.1370G>A (p.Arg457His) rs28931608
NM_001077197.1(PDE11A):c.20_21del (p.Arg7fs) rs202117698
NM_016953.4(PDE11A):c.1811C>G (p.Ser604Ter) rs771254375
NM_016953.4(PDE11A):c.2268_2272del (p.Ser757fs) rs769235876
NM_016953.4(PDE11A):c.985C>T (p.Arg329Ter) rs188985665

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