ClinVar Miner

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

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Total variants: 16
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HGVS dbSNP gnomAD frequency
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.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.1385T>C (p.Leu462Pro)
NM_000500.9(CYP21A2):c.22C>A (p.Leu8Met)
NM_000500.9(CYP21A2):c.601A>G (p.Thr201Ala)
NM_000500.9(CYP21A2):c.738+12_738+13inv
NM_000500.9(CYP21A2):c.931C>A (p.His311Asn)
NM_000500.9(CYP21A2):c.[710T>A;719T>A]
NM_000500.9(CYP21A2):c.[713T>A;719T>A]

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