ClinVar Miner

List of variants studied for Myoclonic epilepsy of Lafora 2

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Total variants: 11
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HGVS dbSNP gnomAD frequency
NM_198586.3(NHLRC1):c.205C>G (p.Pro69Ala) rs28940576 0.00009
NM_198586.3(NHLRC1):c.721C>G (p.Leu241Val) rs772155104 0.00005
NM_198586.3(NHLRC1):c.468_469del (p.Gly158fs) rs587776542 0.00004
NM_198586.3(NHLRC1):c.436G>A (p.Asp146Asn) rs769301934 0.00003
NM_198586.3(NHLRC1):c.254C>G (p.Pro85Arg) rs371218834 0.00001
NM_198586.3(NHLRC1):c.386C>A (p.Pro129His) rs750465793 0.00001
NM_198586.3(NHLRC1):c.76T>A (p.Cys26Ser) rs28940575 0.00001
NM_198586.3(NHLRC1):c.593T>A (p.Ile198Asn) rs121917876
NM_198586.3(NHLRC1):c.793C>T (p.Arg265Ter) rs121917875
NM_198586.3(NHLRC1):c.923A>C (p.Asp308Ala) rs137852859
NM_198586.3(NHLRC1):c.992del (p.Gly331fs) rs587776543

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