ClinVar Miner

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

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Total variants: 17
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NM_000016.5(ACADM):c.1221_1222del (p.Arg408fs) rs875989860
NM_000016.5(ACADM):c.1238G>A (p.Arg413His) rs1337929727
NM_000016.5(ACADM):c.287-2A>G rs1057518677
NM_000016.5(ACADM):c.388-3T>G rs764942250
NM_000016.5(ACADM):c.395C>G (p.Pro132Arg) rs875989854
NM_000016.5(ACADM):c.423_425del (p.Lys144del) rs886042087
NM_000016.5(ACADM):c.577A>G (p.Thr193Ala) rs121434279
NM_000016.5(ACADM):c.683C>A (p.Thr228Asn) rs149678400
NM_000016.5(ACADM):c.717C>G (p.Asn239Lys) rs1348176225
NM_000016.5(ACADM):c.950A>T (p.Gln317Leu) rs1557466604
NM_000016.6(ACADM):c.-6_6delinsACCCCGAGTG (p.Met1fs)
NM_000016.6(ACADM):c.503A>G (p.Asp168Gly)
NM_000016.6(ACADM):c.555T>G (p.Ile185Met)
NM_000016.6(ACADM):c.708G>C (p.Lys236Asn)

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