ClinVar Miner

List of variants studied for Medium-chain acyl-coenzyme A dehydrogenase deficiency by OMIM

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Total variants: 14
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HGVS dbSNP
NM_000016.5(ACADM):c.1102_1105del (p.Ala369fs) rs387906297
NM_000016.5(ACADM):c.1124T>C (p.Ile375Thr) rs121434275
NM_000016.5(ACADM):c.362C>T (p.Thr121Ile) rs121434283
NM_000016.5(ACADM):c.447G>A (p.Met149Ile) rs121434277
NM_000016.5(ACADM):c.577A>G (p.Thr193Ala) rs121434279
NM_000016.5(ACADM):c.583G>A (p.Gly195Arg) rs121434278
NM_000016.5(ACADM):c.730T>C (p.Cys244Arg) rs121434276
NM_000016.5(ACADM):c.734C>T (p.Ser245Leu) rs121434281
NM_000016.5(ACADM):c.799G>A (p.Gly267Arg) rs121434274
NM_000016.5(ACADM):c.842G>C (p.Arg281Thr) rs121434282
NM_000016.5(ACADM):c.999_1011dup (p.Gln338Ter) rs1225471006
NM_000016.6(ACADM):c.199T>C (p.Tyr67His) rs121434280
NM_000016.6(ACADM):c.985A>G (p.Lys329Glu) rs77931234
NM_001286044.1(ACADM):c.-100+662_-100+667del rs864621963

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