ClinVar Miner

List of variants studied for Lafora disease by Genome Diagnostics Laboratory, University Medical Center Utrecht

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Total variants: 2
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HGVS dbSNP gnomAD frequency
NM_198586.3(NHLRC1):c.332C>T (p.Pro111Leu) rs10949483 0.35277
NM_198586.3(NHLRC1):c.386C>A (p.Pro129His) rs750465793 0.00001

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