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: 19
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HGVS dbSNP gnomAD frequency
NM_000497.4(CYP11B1):c.*471A>C rs12543598 0.67053
NM_000497.4(CYP11B1):c.*694T>C rs5303 0.65382
NM_000497.4(CYP11B1):c.*1852T>G rs4736312 0.61613
NM_000497.4(CYP11B1):c.*1566G>T rs1134096 0.60736
NM_000497.4(CYP11B1):c.*318A>G rs5299 0.60710
NM_000497.4(CYP11B1):c.*1499C>T rs1134095 0.60702
NM_000497.4(CYP11B1):c.*738G>A rs5304 0.60698
NM_000497.4(CYP11B1):c.*1042A>G rs7003319 0.60695
NM_000497.4(CYP11B1):c.225A>G (p.Leu75=) rs6410 0.52490
NM_000497.4(CYP11B1):c.*516A>G rs5301 0.49013
NM_000497.4(CYP11B1):c.246C>T (p.Asp82=) rs5283 0.33818
NM_000497.4(CYP11B1):c.*1288A>G rs61752809 0.13519
NM_000497.4(CYP11B1):c.*1417G>A rs61752812 0.11851
NM_000497.4(CYP11B1):c.*923G>C rs61752805 0.06064
NM_000497.4(CYP11B1):c.128G>A (p.Arg43Gln) rs4534 0.03864
NM_000497.4(CYP11B1):c.239+20T>A rs6388 0.03859
NM_000497.4(CYP11B1):c.239+13C>A rs6402 0.00753
NM_000497.4(CYP11B1):c.243C>T (p.Tyr81=) rs9657022 0.00726
NM_000497.4(CYP11B1):c.*1020C>T rs5017238

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