List of variants in gene CYP21A2, LOC106780800 studied for Congenital adrenal hyperplasia

Minimum submission review status:		Collection method:
Minimum conflict level: Report conflict between different conditions
Gene type: Distinguish antisense genes from sense genes
		ClinVar version:

Total variants: 15

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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.518T>A (p.Ile173Asn)	rs6475	0.00117
NM_000500.9(CYP21A2):c.1099C>T (p.Arg367Cys)	rs758658540	0.00016
NM_000500.9(CYP21A2):c.342C>T (p.Ser114=)	rs193922546	0.00016
NM_000500.9(CYP21A2):c.327C>G (p.Ser109=)	rs193922545	0.00012
NM_000500.9(CYP21A2):c.293-7C>G	rs193922544	0.00003
NM_000500.9(CYP21A2):c.710T>A (p.Ile237Asn)	rs1554299737	0.00001
NM_000500.9(CYP21A2):c.713T>A (p.Val238Glu)	rs12530380	0.00001
NM_000500.7(CYP21A2):c.[710T>A;713T>A;719T>A]
NM_000500.9(CYP21A2):c.1064G>A (p.Arg355His)
NM_000500.9(CYP21A2):c.1287C>T (p.Cys429=)	rs193922543
NM_000500.9(CYP21A2):c.1298C>T (p.Pro433Leu)
NM_000500.9(CYP21A2):c.738+12_738+13inv
NM_000500.9(CYP21A2):c.844G>T (p.Val282Leu)	rs6471
NM_000500.9(CYP21A2):c.[710T>A;713T>A]

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