ClinVar Miner

List of variants reported as pathogenic for Lafora disease by Revvity Omics, Revvity

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Total variants: 3

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HGVS	dbSNP	gnomAD frequency
NM_005670.4(EPM2A):c.721C>T (p.Arg241Ter)	rs104893950	0.00003
NM_005670.4(EPM2A):c.108_139del (p.Ala37fs)	rs1204045237
NM_005670.4(EPM2A):c.322del (p.Arg108fs)	rs2128614455

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