ClinVar Miner

List of variants in gene CYP11B1 reported as benign for adrenogenital syndrome

Included ClinVar conditions (12):
Minimum submission review status: Collection method:
Minimum conflict level:
Gene type:
ClinVar version:
Total variants: 18
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HGVS dbSNP
NM_000497.3(CYP11B1):c.*1020C>T rs5017238
NM_000497.3(CYP11B1):c.*1042A>G rs7003319
NM_000497.3(CYP11B1):c.*1288A>G rs61752809
NM_000497.3(CYP11B1):c.*1417G>A rs61752812
NM_000497.3(CYP11B1):c.*1499C>T rs1134095
NM_000497.3(CYP11B1):c.*1566G>T rs1134096
NM_000497.3(CYP11B1):c.*1852T>G rs4736312
NM_000497.3(CYP11B1):c.*318A>G rs5299
NM_000497.3(CYP11B1):c.*471A>C rs12543598
NM_000497.3(CYP11B1):c.*516A>G rs5301
NM_000497.3(CYP11B1):c.*694T>C rs5303
NM_000497.3(CYP11B1):c.*738G>A rs5304
NM_000497.3(CYP11B1):c.*923G>C rs61752805
NM_000497.3(CYP11B1):c.128G>A (p.Arg43Gln) rs4534
NM_000497.3(CYP11B1):c.225A>G (p.Leu75=) rs6410
NM_000497.3(CYP11B1):c.239+13C>A rs6402
NM_000497.3(CYP11B1):c.243C>T (p.Tyr81=) rs9657022
NM_000497.3(CYP11B1):c.246C>T (p.Asp82=) rs5283

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