List of variants reported as pathogenic for acyl-CoA dehydrogenase 9 deficiency by OMIM

Minimum submission review status:		Collection method:
Minimum conflict level: Report conflict between different conditions
Show significances as they were submitted (without aggregation into standard terms)
		ClinVar version:

Total variants: 8

Download table as spreadsheet

HGVS	dbSNP	gnomAD frequency
NM_014049.5(ACAD9):c.-44_-41dup	rs387906242	0.04863
NM_014049.5(ACAD9):c.1594C>T (p.Arg532Trp)	rs377022708	0.00001
NM_014049.5(ACAD9):c.509C>T (p.Ala170Val)	rs762521317	0.00001
NM_014049.5(ACAD9):c.797G>A (p.Arg266Gln)	rs387907042	0.00001
NM_014049.5(ACAD9):c.1249C>T (p.Arg417Cys)	rs368949613
NM_014049.5(ACAD9):c.130T>A (p.Phe44Ile)	rs387907041
NM_014049.5(ACAD9):c.1687C>G (p.His563Asp)	rs1057518752
NM_014049.5(ACAD9):c.976G>C (p.Ala326Pro)	rs115532916

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.