ClinVar Miner

List of variants reported as pathogenic for acyl-CoA dehydrogenase deficiency by Mendelics

Included ClinVar conditions (6):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 7
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HGVS dbSNP
NM_000016.5(ACADM):c.698T>C (p.Ile233Thr) rs770273135
NM_000016.6(ACADM):c.201T>A (p.Tyr67Ter) rs754833969
NM_000016.6(ACADM):c.985A>G (p.Lys329Glu) rs77931234
NM_004453.4(ETFDH):c.1648_1649del (p.Leu550fs) rs1469053638
NM_004453.4(ETFDH):c.295C>T (p.Arg99Cys) rs371493232
NM_004453.4(ETFDH):c.684+2T>G rs1580406119
NM_025207.5(FLAD1):c.745C>T (p.Arg249Ter) rs199979286

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