ClinVar Miner

List of variants studied for Mitochondrial myopathy-lactic acidosis-deafness syndrome by Equipe Genetique des Anomalies du Developpement, Université de Bourgogne

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Total variants: 1
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HGVS dbSNP gnomAD frequency
NM_001256007.3(PNPLA8):c.944_945del (p.Lys314_Tyr315insTer) rs2154516696

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