ClinVar Miner

List of variants reported as pathogenic for classic congenital adrenal hyperplasia due to 21-hydroxylase deficiency by Institute of Human Genetics, Medical University Innsbruck

Included ClinVar conditions (1):
Minimum submission review status: Collection method:
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ClinVar version:
Total variants: 4
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HGVS dbSNP gnomAD frequency
NM_000500.9(CYP21A2):c.1272C>A (p.Cys424Ter) rs1367112998
NM_000500.9(CYP21A2):c.1291G>A (p.Gly431Ser) rs1582312633
NM_000500.9(CYP21A2):c.509G>A (p.Cys170Tyr) rs1582304457
NM_000500.9(CYP21A2):c.525C>A (p.Tyr175Ter) rs1582304536

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