ClinVar Miner

List of variants reported as pathogenic for Lafora disease by GeneReviews

Included ClinVar conditions (2):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 6
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HGVS dbSNP
NM_005670.4(EPM2A):c.721C>T (p.Arg241Ter) rs104893950
NM_198586.3(NHLRC1):c.205C>G (p.Pro69Ala) rs28940576
NM_198586.3(NHLRC1):c.436G>A (p.Asp146Asn) rs769301934
NM_198586.3(NHLRC1):c.468_469del (p.Gly158fs) rs587776542
NM_198586.3(NHLRC1):c.593T>A (p.Ile198Asn) rs121917876
NM_198586.3(NHLRC1):c.76T>A (p.Cys26Ser) rs28940575

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