ClinVar Miner

List of variants studied for Lafora disease by GeneReviews

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Total variants: 9
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HGVS dbSNP gnomAD frequency
NM_005670.4(EPM2A):c.163C>A (p.Gln55Lys) rs187930476 0.01101
NM_198586.3(NHLRC1):c.205C>G (p.Pro69Ala) rs28940576 0.00009
NM_198586.3(NHLRC1):c.468_469del (p.Gly158fs) rs587776542 0.00004
NM_005670.4(EPM2A):c.721C>T (p.Arg241Ter) rs104893950 0.00003
NM_198586.3(NHLRC1):c.436G>A (p.Asp146Asn) rs769301934 0.00003
NM_005670.4(EPM2A):c.512G>A (p.Arg171His) rs137852916 0.00001
NM_198586.3(NHLRC1):c.76T>A (p.Cys26Ser) rs28940575 0.00001
NM_005670.4(EPM2A):c.136G>C (p.Ala46Pro) rs374338349
NM_198586.3(NHLRC1):c.593T>A (p.Ile198Asn) rs121917876

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