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: 13

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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.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.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)

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