ClinVar Miner

List of variants in gene combination EPM2A, LOC100507557 reported as likely benign for adolescent-onset epilepsy syndrome

Included ClinVar conditions (80):
Minimum submission review status: Collection method:
Minimum conflict level:
Gene type:
ClinVar version:
Total variants: 4
Download table as spreadsheet
NM_005670.4(EPM2A):c.129C>G (p.Ala43=) rs547147183
NM_005670.4(EPM2A):c.163C>A (p.Gln55Lys) rs187930476
NM_005670.4(EPM2A):c.171G>T (p.Pro57=) rs531330673
NM_005670.4(EPM2A):c.210G>A (p.Glu70=) rs878854780

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.