ClinVar Miner

List of variants in gene combination CYP21A2, LOC106780800 reported as pathogenic for 46,XX disorder of sex development

Included ClinVar conditions (32):
Minimum submission review status: Collection method:
Minimum conflict level:
Gene type:
ClinVar version:
Total variants: 27
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HGVS dbSNP
NM_000500.5(CYP21A2):c.[701T>A;713T>A;719T>A]
NM_000500.7(CYP21A2):c.332_339delGAGACTAC (p.Gly111Valfs) rs387906510
NM_000500.7(CYP21A2):c.955C>T (p.Gln319Ter) rs7755898
NM_000500.7(CYP21A2):c.[377C>G];[518T>A]
NM_000500.7(CYP21A2):c.[518T>A];[830_841delTCCTGGAAGGGC]
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.1069C>T (p.Arg357Trp) rs7769409
NM_000500.9(CYP21A2):c.1174G>A (p.Ala392Thr) rs202242769
NM_000500.9(CYP21A2):c.1217G>A (p.Trp406Ter) rs151344503
NM_000500.9(CYP21A2):c.1225C>T (p.Arg409Cys)
NM_000500.9(CYP21A2):c.1280G>A (p.Arg427His)
NM_000500.9(CYP21A2):c.1360C>T (p.Pro454Ser) rs6445
NM_000500.9(CYP21A2):c.1447C>T (p.Pro483Ser)
NM_000500.9(CYP21A2):c.1451_1452delinsC (p.Arg484fs) rs397509367
NM_000500.9(CYP21A2):c.188A>T (p.His63Leu) rs9378252
NM_000500.9(CYP21A2):c.293-13C>G rs6467
NM_000500.9(CYP21A2):c.293-2A>G
NM_000500.9(CYP21A2):c.361A>C (p.Lys121Gln) rs267606757
NM_000500.9(CYP21A2):c.518T>A (p.Ile173Asn) rs6475
NM_000500.9(CYP21A2):c.710_719delinsACGAGGAGAA (p.Ile237_Met240delinsAsnGluGluLys) rs786204728
NM_000500.9(CYP21A2):c.844G>C (p.Val282Leu) rs6471
NM_000500.9(CYP21A2):c.844G>T (p.Val282Leu) rs6471
NM_000500.9(CYP21A2):c.85dup (p.His29fs)
NM_000500.9(CYP21A2):c.874G>A (p.Gly292Ser) rs201552310
NM_000500.9(CYP21A2):c.923dup (p.Leu308fs) rs267606756
NM_000500.9(CYP21A2):c.92C>T (p.Pro31Leu) rs9378251

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