ClinVar Miner

List of variants studied for Lafora disease by Neuberg Centre For Genomic Medicine, NCGM

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Total variants: 3
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HGVS dbSNP gnomAD frequency
NM_198586.3(NHLRC1):c.204C>A (p.Cys68Ter) rs769144119 0.00001
NM_005670.4(EPM2A):c.476G>A (p.Arg159Lys)
NM_005670.4(EPM2A):c.789C>G (p.Tyr263Ter)

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