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

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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: 6

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HGVS	dbSNP	gnomAD frequency
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.524A>G (p.His175Arg)	rs1264840627	0.00001
NM_005670.4(EPM2A):c.476G>A (p.Arg159Lys)
NM_005670.4(EPM2A):c.499G>C (p.Gly167Arg)	rs1776588836
NM_005670.4(EPM2A):c.789C>G (p.Tyr263Ter)

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