ClinVar Miner

List of variants studied for Myoclonic epilepsy of Lafora 2 by Center for Genomic Medicine, King Faisal Specialist Hospital and Research Center

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Total variants: 2
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HGVS dbSNP gnomAD frequency
NM_198586.3(NHLRC1):c.436G>A (p.Asp146Asn) rs769301934 0.00003
NM_198586.3(NHLRC1):c.254C>G (p.Pro85Arg) rs371218834 0.00001

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