ClinVar Miner

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

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Total variants: 7
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HGVS dbSNP
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.431_434del (p.Lys144fs) rs1057517356
NM_000016.5(ACADM):c.449_452del (p.Thr150fs) rs786204642
NM_000016.5(ACADM):c.946-2A>C rs758753966
NM_000016.5(ACADM):c.946-6T>G rs765793260

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