List of variants in gene EPM2A studied for Lafora disease

Minimum submission review status:		Collection method:
Minimum conflict level: Report conflict between different conditions
Gene type: Distinguish antisense genes from sense genes
		ClinVar version:

Total variants: 17

Download table as spreadsheet

HGVS	dbSNP	gnomAD frequency
NM_005670.4(EPM2A):c.402G>A (p.Gly134=)	rs35230590	0.18342
NM_005670.4(EPM2A):c.722G>A (p.Arg241Gln)	rs146321088	0.00197
NM_005670.4(EPM2A):c.488A>G (p.Asn163Ser)	rs141919651	0.00015
NM_005670.4(EPM2A):c.721C>T (p.Arg241Ter)	rs104893950	0.00003
NM_005670.4(EPM2A):c.302-1G>C	rs369463720	0.00001
NM_005670.4(EPM2A):c.322C>T (p.Arg108Cys)	rs137852915	0.00001
NM_005670.4(EPM2A):c.512G>A (p.Arg171His)	rs137852916	0.00001
NM_005670.4(EPM2A):c.524A>G (p.His175Arg)	rs1264840627	0.00001
NM_005670.4(EPM2A):c.322del (p.Arg108fs)	rs2128614455
NM_005670.4(EPM2A):c.335dup (p.Tyr112Ter)	rs587776553
NM_005670.4(EPM2A):c.476G>A (p.Arg159Lys)
NM_005670.4(EPM2A):c.499G>C (p.Gly167Arg)	rs1776588836
NM_005670.4(EPM2A):c.745G>A (p.Val249Met)	rs1387516050
NM_005670.4(EPM2A):c.759delinsCATGCA (p.Ala254fs)	rs1131691331
NM_005670.4(EPM2A):c.789C>G (p.Tyr263Ter)
NM_005670.4(EPM2A):c.835G>A (p.Gly279Ser)	rs137852917
NM_005670.4(EPM2A):c.953dup (p.Gln319fs)	rs587776554

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.