List of variants reported as pathogenic for Very long chain acyl-CoA dehydrogenase deficiency by ARUP Laboratories, Molecular Genetics and Genomics, ARUP Laboratories

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: 30

Download table as spreadsheet

HGVS	dbSNP	gnomAD frequency
NM_000018.4(ACADVL):c.848T>C (p.Val283Ala)	rs113994167	0.00116
NM_000018.4(ACADVL):c.520G>A (p.Val174Met)	rs369560930	0.00009
NM_000018.4(ACADVL):c.779C>T (p.Thr260Met)	rs113994168	0.00005
NM_000018.4(ACADVL):c.1096C>T (p.Arg366Cys)	rs771874163	0.00003
NM_000018.4(ACADVL):c.1097G>A (p.Arg366His)	rs112406105	0.00003
NM_000018.4(ACADVL):c.1182+1G>A	rs113690956	0.00003
NM_000018.4(ACADVL):c.1376G>A (p.Arg459Gln)	rs751995154	0.00003
NM_000018.4(ACADVL):c.1837C>T (p.Arg613Trp)	rs118204014	0.00003
NM_000018.4(ACADVL):c.1322G>A (p.Gly441Asp)	rs2309689	0.00002
NM_000018.4(ACADVL):c.1679-6G>A	rs113994171	0.00002
NM_000018.4(ACADVL):c.1405C>T (p.Arg469Trp)	rs113994170	0.00001
NM_000018.4(ACADVL):c.1748C>T (p.Ser583Leu)	rs1085307648	0.00001
NM_000018.4(ACADVL):c.364A>G (p.Asn122Asp)	rs1057520088	0.00001
NM_000018.4(ACADVL):c.497_498del (p.Ile166fs)	rs1057516369	0.00001
NM_000018.4(ACADVL):c.553G>A (p.Gly185Ser)	rs545215807	0.00001
NM_000018.4(ACADVL):c.664G>A (p.Gly222Arg)	rs398123091	0.00001
NM_000018.4(ACADVL):c.753-2A>C	rs398123092	0.00001
NM_000018.4(ACADVL):c.1039del (p.Ala347fs)	rs2071295244
NM_000018.4(ACADVL):c.1194C>A (p.Tyr398Ter)	rs1597533847
NM_000018.4(ACADVL):c.199A>T (p.Lys67Ter)	rs765432568
NM_000018.4(ACADVL):c.298_299del (p.Gln100fs)	rs786204713
NM_000018.4(ACADVL):c.343del	rs387906249
NM_000018.4(ACADVL):c.385GAG[1] (p.Glu130del)	rs387906251
NM_000018.4(ACADVL):c.623-1G>A	rs1597526782
NM_000018.4(ACADVL):c.664G>C (p.Gly222Arg)	rs398123091
NM_000018.4(ACADVL):c.869dup (p.Ile291fs)	rs886044671
NM_000018.4(ACADVL):c.889_891del (p.Glu297del)	rs796051914
NM_000018.4(ACADVL):c.890AGA[2] (p.Lys299del)	rs387906252
NM_000018.4(ACADVL):c.932del (p.Phe311fs)	rs764488310
NM_000018.4(ACADVL):c.956C>A (p.Ser319Ter)	rs149467828

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.