List of variants reported as benign for Deficiency of acetyl-CoA acetyltransferase by Natera, Inc.

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: 10

Download table as spreadsheet

HGVS	dbSNP	gnomAD frequency
NM_000019.4(ACAT1):c.13G>C (p.Ala5Pro)	rs3741056	0.27945
NM_000019.4(ACAT1):c.-9T>A	rs3741055	0.26111
NM_000019.4(ACAT1):c.471C>A (p.Ser157=)	rs35188041	0.16806
NM_000019.4(ACAT1):c.978A>C (p.Pro326=)	rs73559264	0.00941
NM_000019.4(ACAT1):c.903G>A (p.Ala301=)	rs75811190	0.00390
NM_000019.4(ACAT1):c.1068T>C (p.Phe356=)	rs139657823	0.00308
NM_000019.4(ACAT1):c.480A>G (p.Pro160=)	rs141131039	0.00101
NM_000019.4(ACAT1):c.858G>A (p.Leu286=)	rs143892373	0.00014
NM_000019.4(ACAT1):c.*6dup	rs111390656
NM_000019.4(ACAT1):c.436-4G>A	rs3741050

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.