List of variants in gene CYP11B1 reported as likely benign for adrenal cortex disorder

Minimum submission review status:		Collection method:
Minimum conflict level: Report conflict between different conditions
Gene type: Distinguish antisense genes from sense genes
Show significances as they were submitted (without aggregation into standard terms)
		ClinVar version:

Total variants: 17

Download table as spreadsheet

HGVS	dbSNP	gnomAD frequency
NM_000497.4(CYP11B1):c.*1871T>A	rs61752818	0.01316
NM_000497.4(CYP11B1):c.*1076C>T	rs61752806	0.01209
NM_000497.4(CYP11B1):c.*193A>T	rs61752798	0.01010
NM_000497.4(CYP11B1):c.*1512G>A	rs61752814	0.00880
NM_000497.4(CYP11B1):c.*1258G>A	rs61752808	0.00878
NM_000497.4(CYP11B1):c.*468C>T	rs114832894	0.00774
NM_000497.4(CYP11B1):c.243C>T (p.Tyr81=)	rs9657022	0.00726
NM_000497.4(CYP11B1):c.*1138del	rs148110533	0.00599
NM_000497.4(CYP11B1):c.*634G>A	rs1137481	0.00126
NM_000497.4(CYP11B1):c.294G>A (p.Glu98=)	rs143211108	0.00034
NM_000497.4(CYP11B1):c.*718T>G	rs189479208	0.00032
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
NM_000497.4(CYP11B1):c.*193A>C	rs61752798

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.