ClinVar Miner

List of variants reported as pathogenic for Classic congenital adrenal hyperplasia due to 21-hydroxylase deficiency by Knight Diagnostic Laboratories, Oregon Health and Sciences University

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Total variants: 2
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HGVS dbSNP gnomAD frequency
NM_000500.9(CYP21A2):c.1360C>T (p.Pro454Ser) rs6445 0.00530
NM_000500.9(CYP21A2):c.844G>T (p.Val282Leu) rs6471

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