ClinVar Miner

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

Included ClinVar conditions (7):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 9
Download table as spreadsheet
HGVS dbSNP gnomAD frequency
NM_000016.6(ACADM):c.985A>G (p.Lys329Glu) rs77931234 0.00363
NM_004453.4(ETFDH):c.295C>T (p.Arg99Cys) rs371493232 0.00005
NM_000016.6(ACADM):c.698T>C (p.Ile233Thr) rs770273135 0.00001
NM_025207.5(FLAD1):c.745C>T (p.Arg249Ter) rs199979286 0.00001
NM_000016.6(ACADM):c.201T>A (p.Tyr67Ter) rs754833969
NM_000016.6(ACADM):c.387+1del rs786204424
NM_004453.4(ETFDH):c.1082A>G (p.Tyr361Cys) rs2150312299
NM_004453.4(ETFDH):c.1648_1649del (p.Leu550fs) rs1469053638
NM_004453.4(ETFDH):c.684+2T>G rs1580406119

The information on this website is not intended for direct diagnostic use or medical decision-making without review by a genetics professional. Individuals should not change their health behavior solely on the basis of information contained on this website. Neither the University of Utah nor the National Institutes of Health independently verfies the submitted information. If you have questions about the information contained on this website, please see a health care professional.