ClinVar Miner

List of variants in gene EPAS1 reported as uncertain significance for Familial erythrocytosis

Minimum submission review status: Collection method:
Minimum conflict level:
Gene type:
ClinVar version:
Total variants: 8
Download table as spreadsheet
HGVS dbSNP
NM_001430.5(EPAS1):c.*540del rs75932330
NM_001430.5(EPAS1):c.*680dup rs886056094
NM_001430.5(EPAS1):c.*715_*716AG[1] rs886056096
NM_001430.5(EPAS1):c.*733C>G rs886056097
NM_001430.5(EPAS1):c.-472G>A rs886056075
NM_001430.5(EPAS1):c.1035-6del rs757409274
NM_001430.5(EPAS1):c.218-10_218-9insTC rs1553394835
NM_001430.5(EPAS1):c.218-11_218-10insG rs142684263

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.