ClinVar Miner

List of variants reported as pathogenic for acyl-CoA dehydrogenase deficiency by Research Unit for Molecular Medicine, Department for Clinical Medicine,Aarhus University

Included ClinVar conditions (6):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 8
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HGVS dbSNP
NM_025207.5(FLAD1):c.1484_1486del (p.Ser495del) rs876661309
NM_025207.5(FLAD1):c.1588C>T (p.Arg530Cys) rs771466122
NM_025207.5(FLAD1):c.324del (p.Arg109fs) rs876661314
NM_025207.5(FLAD1):c.397_400TTCT[1] (p.Phe134fs) rs876661313
NM_025207.5(FLAD1):c.498del (p.Ser167fs) rs876661315
NM_025207.5(FLAD1):c.526_537delinsCA (p.Ala176fs) rs876661312
NM_025207.5(FLAD1):c.568_569dup (p.Val191fs) rs876661310
NM_025207.5(FLAD1):c.836del (p.Phe279fs) rs876661311

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