ClinVar Miner

List of variants in gene combination CYP21A2, LOC106780800 reported by Women's Health and Genetics/Laboratory Corporation of America, LabCorp

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Total variants: 37
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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_000500.9(CYP21A2):c.719T>A (p.Met240Lys) rs6476 0.00523
NM_000500.9(CYP21A2):c.797C>T (p.Ala266Val) rs144029176 0.00193
NM_000500.9(CYP21A2):c.518T>A (p.Ile173Asn) rs6475 0.00117
NM_000500.9(CYP21A2):c.803C>T (p.Pro268Leu) rs61732108 0.00090
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.371C>T (p.Thr124Ile) rs566065375 0.00011
NM_000500.9(CYP21A2):c.293-7C>G rs193922544 0.00003
NM_000500.9(CYP21A2):c.922T>G (p.Leu308Val) rs994764994 0.00002
NM_000500.9(CYP21A2):c.49C>T (p.Arg17Cys) rs757608533 0.00001
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.1132G>T (p.Asp378Tyr) rs528524868
NM_000500.9(CYP21A2):c.1143G>C (p.Glu381Asp)
NM_000500.9(CYP21A2):c.1174G>A (p.Ala392Thr) rs202242769
NM_000500.9(CYP21A2):c.1205C>T (p.Pro402Leu)
NM_000500.9(CYP21A2):c.1213T>C (p.Phe405Leu)
NM_000500.9(CYP21A2):c.1287C>T (p.Cys429=) rs193922543
NM_000500.9(CYP21A2):c.1298C>T (p.Pro433Leu)
NM_000500.9(CYP21A2):c.1299G>A (p.Pro433=)
NM_000500.9(CYP21A2):c.1385T>C (p.Leu462Pro)
NM_000500.9(CYP21A2):c.22C>A (p.Leu8Met)
NM_000500.9(CYP21A2):c.293-13C>G rs6467
NM_000500.9(CYP21A2):c.332_339del (p.Gly111fs) rs387906510
NM_000500.9(CYP21A2):c.601A>G (p.Thr201Ala)
NM_000500.9(CYP21A2):c.738+12_738+13inv
NM_000500.9(CYP21A2):c.844G>T (p.Val282Leu) rs6471
NM_000500.9(CYP21A2):c.923dup (p.Leu308fs) rs267606756
NM_000500.9(CYP21A2):c.931C>A (p.His311Asn)
NM_000500.9(CYP21A2):c.[710T>A;713T>A]
NM_000500.9(CYP21A2):c.[710T>A;719T>A]
NM_000500.9(CYP21A2):c.[713T>A;719T>A]

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