ClinVar Miner

List of variants reported as uncertain significance for Lafora disease by Center for Genomics, Ann and Robert H. Lurie Children's Hospital of Chicago

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Total variants: 2

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HGVS	dbSNP	gnomAD frequency
NM_005670.4(EPM2A):c.143G>A (p.Gly48Asp)	rs946076987	0.00023
NM_005670.4(EPM2A):c.524A>G (p.His175Arg)	rs1264840627	0.00001

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