List of variants reported as pathogenic for classic congenital adrenal hyperplasia due to 21-hydroxylase deficiency by 3billion, Medical Genetics

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Total variants: 9

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HGVS	dbSNP	gnomAD frequency
NM_000500.7(CYP21A2):c.955C>T (p.Gln319Ter)	rs7755898	0.00339
NM_000500.9(CYP21A2):c.518T>A (p.Ile173Asn)	rs6475	0.00117
NM_000500.9(CYP21A2):c.1447C>T (p.Pro483Ser)	rs776989258	0.00047
NM_000500.9(CYP21A2):c.1069C>T (p.Arg357Trp)	rs7769409	0.00007
NM_000500.9(CYP21A2):c.710T>A (p.Ile237Asn)	rs1554299737	0.00001
NM_000500.9(CYP21A2):c.293-13C>G	rs6467
NM_000500.9(CYP21A2):c.433del (p.Gln145fs)	rs2151872060
NM_000500.9(CYP21A2):c.844G>T (p.Val282Leu)	rs6471
NM_000500.9(CYP21A2):c.923dup (p.Leu308fs)	rs267606756

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