List of variants reported as pathogenic for Classic congenital adrenal hyperplasia due to 21-hydroxylase deficiency by OMIM

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		ClinVar version:

Total variants: 27

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HGVS	dbSNP	gnomAD frequency
NM_000500.9(CYP21A2):c.188A>T (p.His63Leu)	rs9378252	0.00995
NM_000500.9(CYP21A2):c.1360C>T (p.Pro454Ser)	rs6445	0.00530
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.92C>T (p.Pro31Leu)	rs9378251	0.00055
NM_000500.9(CYP21A2):c.1069C>T (p.Arg357Trp)	rs7769409	0.00007
NM_000500.9(CYP21A2):c.1273G>A (p.Gly425Ser)	rs72552758	0.00004
NM_000500.9(CYP21A2):c.1217G>A (p.Trp406Ter)	rs151344503	0.00001
NM_000500.9(CYP21A2):c.1280G>A (p.Arg427His)	rs151344504	0.00001
CYP21A2, 30-KB DEL
CYP21A2, GENE CONVERSION CYP21 FROM CYP21P
NM_000500.7(CYP21A2):c.[710T>A;713T>A;719T>A]
NM_000500.7(CYP21A2):c.[844G>T;920_921insT;955C>T;1069C>T]
NM_000500.9(CYP21A2):c.1143G>C (p.Glu381Asp)
NM_000500.9(CYP21A2):c.1225C>T (p.Arg409Cys)	rs72552757
NM_000500.9(CYP21A2):c.1451_1452delinsC (p.Arg484fs)	rs397509367
NM_000500.9(CYP21A2):c.293-13C>G	rs6467
NM_000500.9(CYP21A2):c.293-2A>G	rs1582302625
NM_000500.9(CYP21A2):c.332_339del (p.Gly111fs)	rs387906510
NM_000500.9(CYP21A2):c.361A>C (p.Lys121Gln)	rs267606757
NM_000500.9(CYP21A2):c.511dup (p.Ser171fs)
NM_000500.9(CYP21A2):c.844G>T (p.Val282Leu)	rs6471
NM_000500.9(CYP21A2):c.85dup (p.His29fs)	rs1582299448
NM_000500.9(CYP21A2):c.874G>A (p.Gly292Ser)	rs201552310
NM_000500.9(CYP21A2):c.939+1G>C	rs1474566961
NM_000500.9(CYP21A2):c.[-4C>T;1360C>T317C>T]
NM_000500.9(CYP21A2):c.[1019G>A;1360C>T]

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