ClinVar Miner

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

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Total variants: 25
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HGVS dbSNP
NM_000016.5(ACADM):c.-17C>G rs367734665
NM_000016.5(ACADM):c.1057T>G (p.Tyr353Asp) rs875989856
NM_000016.5(ACADM):c.1087G>A (p.Asp363Asn) rs875989866
NM_000016.5(ACADM):c.1115C>A (p.Ala372Asp) rs781424858
NM_000016.5(ACADM):c.1184A>C (p.Lys395Thr) rs776312173
NM_000016.5(ACADM):c.127G>A (p.Glu43Lys) rs147559466
NM_000016.5(ACADM):c.158G>A (p.Arg53His) rs754938068
NM_000016.5(ACADM):c.238A>G (p.Arg80Gly) rs758476299
NM_000016.5(ACADM):c.295G>A (p.Gly99Arg) rs875989858
NM_000016.5(ACADM):c.296G>T (p.Gly99Val) rs370608001
NM_000016.5(ACADM):c.302G>A (p.Gly101Glu) rs875989862
NM_000016.5(ACADM):c.346T>G (p.Cys116Gly) rs875989863
NM_000016.5(ACADM):c.388-3T>G rs764942250
NM_000016.5(ACADM):c.503A>C (p.Asp168Ala) rs745844469
NM_000016.5(ACADM):c.508G>T (p.Ala170Ser) rs763613689
NM_000016.5(ACADM):c.50G>A (p.Arg17His) rs17848070
NM_000016.5(ACADM):c.526G>T (p.Ala176Ser) rs200754053
NM_000016.5(ACADM):c.558T>A (p.Asn186Lys) rs754359356
NM_000016.5(ACADM):c.580A>G (p.Asn194Asp) rs773677327
NM_000016.5(ACADM):c.599+5G>A rs875989861
NM_000016.5(ACADM):c.602A>G (p.Tyr201Cys) rs875989871
NM_000016.5(ACADM):c.661G>A (p.Gly221Arg) rs753627680
NM_000016.5(ACADM):c.728G>A (p.Arg243Gln) rs373852490
NM_000016.5(ACADM):c.755T>G (p.Phe252Cys) rs780510026
NM_000016.5(ACADM):c.907G>A (p.Ala303Thr) rs875989855

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