List of variants reported as benign for Beta-hydroxyisobutyryl-CoA deacylase deficiency

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: 16

Download table as spreadsheet

HGVS	dbSNP	gnomAD frequency
NM_014362.4(HIBCH):c.136A>G (p.Thr46Ala)	rs1058180	0.72415
NM_014362.4(HIBCH):c.2T>C (p.Met1Thr)	rs291466	0.52671
NM_014362.4(HIBCH):c.517+15T>A	rs291417	0.02472
NM_014362.4(HIBCH):c.488G>C (p.Cys163Ser)	rs74832989	0.01849
NM_014362.4(HIBCH):c.735A>C (p.Glu245Asp)	rs61752508	0.01780
NM_014362.4(HIBCH):c.1038T>A (p.Val346=)	rs13406709	0.00643
NM_014362.4(HIBCH):c.663+19G>T	rs75352449	0.00485
NM_014362.4(HIBCH):c.214C>T (p.Leu72=)	rs149479887	0.00238
NM_014362.4(HIBCH):c.243T>G (p.Thr81=)	rs144074606	0.00226
NM_014362.4(HIBCH):c.438+9A>T	rs201813923	0.00078
NM_014362.4(HIBCH):c.957A>G (p.Ser319=)	rs3213841	0.00028
NM_014362.4(HIBCH):c.1011+11A>T	rs550386327	0.00014
NM_014362.4(HIBCH):c.1011+20del	rs144660628
NM_014362.4(HIBCH):c.35+8AG[2]	rs754126815
NM_014362.4(HIBCH):c.385+11del	rs374891270
NM_014362.4(HIBCH):c.664-16del

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.