ClinVar Miner

List of variants studied for Lafora disease by Baylor Genetics

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Total variants: 5
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HGVS dbSNP gnomAD frequency
NM_005670.4(EPM2A):c.722G>A (p.Arg241Gln) rs146321088 0.00197
NM_198586.3(NHLRC1):c.46A>G (p.Met16Val) rs146636139 0.00108
NM_198586.3(NHLRC1):c.368G>A (p.Trp123Ter) rs1783750860
NM_198586.3(NHLRC1):c.647_649del (p.Ser216del)
NM_198586.3(NHLRC1):c.716T>C (p.Leu239Pro)

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