ClinVar Miner

List of variants in gene CYP11B1 reported as likely benign for adrenal gland hyperfunction

Included ClinVar conditions (18):
Minimum submission review status: Collection method:
Minimum conflict level:
Gene type:
ClinVar version:
Total variants: 7
Download table as spreadsheet
HGVS dbSNP gnomAD frequency
NM_000497.4(CYP11B1):c.*1138del rs148110533 0.00599
NM_000497.4(CYP11B1):c.294G>A (p.Glu98=) rs143211108 0.00034
NM_000497.4(CYP11B1):c.157C>T (p.Leu53=) rs61751135 0.00005
NM_000497.4(CYP11B1):c.222A>G (p.Glu74=) rs200096159 0.00003
NM_000497.4(CYP11B1):c.244G>A (p.Asp82Asn) rs762347776 0.00003
NM_000497.4(CYP11B1):c.270T>C (p.Cys90=) rs778601992 0.00001
NM_000497.4(CYP11B1):c.*1555del rs548944247

The information on this website is not intended for direct diagnostic use or medical decision-making without review by a genetics professional. Individuals should not change their health behavior solely on the basis of information contained on this website. Neither the University of Utah nor the National Institutes of Health independently verfies the submitted information. If you have questions about the information contained on this website, please see a health care professional.