ClinVar Miner

List of variants reported as pathogenic for Medium-chain acyl-coenzyme A dehydrogenase deficiency by Natera Inc

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Total variants: 4
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NM_000016.5(ACADM):c.1257C>A (p.Tyr419Ter) rs753928772
NM_000016.5(ACADM):c.244dup (p.Trp82fs) rs786204566
NM_000016.5(ACADM):c.617G>A (p.Arg206His) rs200724875
NM_001286044.1(ACADM):c.-100+674dup rs1553123071

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