ClinVar Miner

List of variants in gene PDE11A reported as likely pathogenic for Pigmented nodular adrenocortical disease, primary, 2

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Total variants: 8
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HGVS dbSNP gnomAD frequency
NM_016953.4(PDE11A):c.985C>T (p.Arg329Ter) rs188985665 0.00042
NM_016953.4(PDE11A):c.1811C>G (p.Ser604Ter) rs771254375 0.00011
NM_001077197.2(PDE11A):c.20_21del (p.Arg7fs) rs202117698
NM_016953.4(PDE11A):c.1149T>A (p.Tyr383Ter)
NM_016953.4(PDE11A):c.1270_1280del (p.Ser424fs) rs2105727398
NM_016953.4(PDE11A):c.1585C>T (p.Gln529Ter) rs2105581875
NM_016953.4(PDE11A):c.1913_1915delinsG (p.Gln638fs) rs1574084195
NM_016953.4(PDE11A):c.2268_2272del (p.Ser757fs) rs769235876

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