ClinVar Miner

List of variants in gene EGLN1 reported as benign for Familial erythrocytosis

Minimum submission review status: Collection method:
Minimum conflict level:
Gene type:
ClinVar version:
Total variants: 3
Download table as spreadsheet
NM_022051.2(EGLN1):c.*648del rs149920332
NM_022051.2(EGLN1):c.-3142dup rs111995599
NM_022051.2(EGLN1):c.1217-10del rs371155853

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.