ClinVar Miner

List of variants reported as pathogenic for adrenogenital syndrome by Counsyl

Included ClinVar conditions (12):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 26
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HGVS dbSNP
NM_000349.3(STAR):c.562C>T (p.Arg188Cys) rs104894090
NM_000349.3(STAR):c.577C>T (p.Arg193Ter) rs387907235
NM_000349.3(STAR):c.64+1G>T rs765968701
NM_000349.3(STAR):c.772C>T (p.Gln258Ter) rs104894085
NM_000497.3(CYP11B1):c.1066C>T (p.Gln356Ter) rs146124466
NM_000497.3(CYP11B1):c.1181del (p.Asn394fs) rs1256580853
NM_000497.3(CYP11B1):c.317_344del (p.Leu106fs) rs764418169
NM_000497.3(CYP11B1):c.372del (p.His125fs) rs1554653520
NM_000497.3(CYP11B1):c.740G>A (p.Trp247Ter) rs866430018
NM_000497.3(CYP11B1):c.779G>A (p.Trp260Ter) rs1554652999
NM_000497.3(CYP11B1):c.780G>A (p.Trp260Ter) rs1554652998
NM_000500.7(CYP21A2):c.332_339delGAGACTAC (p.Gly111Valfs) rs387906510
NM_000500.7(CYP21A2):c.955C>T (p.Gln319Ter) rs7755898
NM_000500.7:c.*28697405C>T
NM_000500.7:c.*28697972C>G
NM_000500.7:c.*28698024_*28698031del8
NM_000500.7:c.*28698317T>A
NM_000500.7:c.*28699001G>T
NM_000500.7:c.*28699312C>T
NM_000500.7:c.*28699426C>T
NM_000500.9(CYP21A2):c.1069C>T (p.Arg357Trp) rs7769409
NM_000500.9(CYP21A2):c.293-13C>G rs6467
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>T (p.Val282Leu) rs6471
NM_000500.9(CYP21A2):c.92C>T (p.Pro31Leu) rs9378251

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