ClinVar Miner

List of variants reported as pathogenic for Medium-chain acyl-coenzyme A dehydrogenase deficiency by Integrated Genetics/Laboratory Corporation of America

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Total variants: 13
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HGVS dbSNP
NM_000016.5(ACADM):c.1114dup (p.Ala372fs) rs1057516278
NM_000016.5(ACADM):c.1194+1G>A rs769331400
NM_000016.5(ACADM):c.244dup (p.Trp82fs) rs786204566
NM_000016.5(ACADM):c.387+1G>A rs1057516983
NM_000016.5(ACADM):c.387+1del rs786204424
NM_000016.5(ACADM):c.431_434del (p.Lys144fs) rs1057517356
NM_000016.5(ACADM):c.443G>A (p.Arg148Lys) rs778906552
NM_000016.5(ACADM):c.449_452del (p.Thr150fs) rs786204642
NM_000016.5(ACADM):c.583G>A (p.Gly195Arg) rs121434278
NM_000016.5(ACADM):c.799G>A (p.Gly267Arg) rs121434274
NM_000016.6(ACADM):c.199T>C (p.Tyr67His) rs121434280
NM_000016.6(ACADM):c.85C>T (p.Arg29Ter)
NM_000016.6(ACADM):c.985A>G (p.Lys329Glu) rs77931234

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