ClinVar Miner

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

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Total variants: 3
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HGVS dbSNP
NM_000016.5(ACADM):c.698T>C (p.Ile233Thr) rs770273135
NM_000016.6(ACADM):c.201T>A (p.Tyr67Ter) rs754833969
NM_000016.6(ACADM):c.985A>G (p.Lys329Glu) rs77931234

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