ClinVar Miner

List of variants in gene combination EPM2A, LOC100507557 reported as uncertain significance for Lafora disease

Included ClinVar conditions (2):
Minimum submission review status: Collection method:
Minimum conflict level:
Gene type:
ClinVar version:
Total variants: 4
Download table as spreadsheet
HGVS dbSNP
NM_005670.4(EPM2A):c.136G>A (p.Ala46Thr) rs374338349
NM_005670.4(EPM2A):c.143G>A (p.Gly48Asp) rs946076987
NM_005670.4(EPM2A):c.163C>A (p.Gln55Lys) rs187930476
NM_005670.4(EPM2A):c.235G>C (p.Gly79Arg) rs374826256

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.