List of variants in gene EPM2A reported as likely pathogenic for epilepsy

Minimum submission review status:		Collection method:
Minimum conflict level: Report conflict between different conditions
Gene type: Distinguish antisense genes from sense genes
Show significances as they were submitted (without aggregation into standard terms)
		ClinVar version:

Total variants: 5

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HGVS	dbSNP	gnomAD frequency
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.745G>A (p.Val249Met)	rs1387516050
NM_005670.4(EPM2A):c.758A>T (p.His253Leu)	rs749937487
NM_005670.4(EPM2A):c.759delinsCATGCA (p.Ala254fs)	rs1131691331

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