ClinVar Miner

List of variants reported as likely pathogenic for Medium-chain acyl-coenzyme A dehydrogenase deficiency by ARUP Laboratories, Molecular Genetics and Genomics, ARUP Laboratories

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Total variants: 11
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HGVS dbSNP
NM_000016.5(ACADM):c.1052C>T (p.Thr351Ile) rs766140986
NM_000016.5(ACADM):c.1189T>A (p.Tyr397Asn) rs759158371
NM_000016.5(ACADM):c.395C>G (p.Pro132Arg) rs875989854
NM_000016.5(ACADM):c.447G>T (p.Met149Ile) rs121434277
NM_000016.5(ACADM):c.526G>A (p.Ala176Thr) rs200754053
NM_000016.5(ACADM):c.599+1G>A rs866388216
NM_000016.5(ACADM):c.600-18G>A rs370523609
NM_000016.5(ACADM):c.683C>A (p.Thr228Asn) rs149678400
NM_000016.5(ACADM):c.757G>A (p.Glu253Lys) rs768884003
NM_000016.6(ACADM):c.201T>A (p.Tyr67Ter) rs754833969
NM_001286044.1(ACADM):c.-100+1905AAG[2] rs875989857

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