ClinVar Miner

List of variants reported as benign for beta-ketothiolase deficiency by Invitae

Included ClinVar conditions (1):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 10
Download table as spreadsheet
NM_000019.4(ACAT1):c.1068T>C (p.Phe356=) rs139657823
NM_000019.4(ACAT1):c.13G>C (p.Ala5Pro) rs3741056
NM_000019.4(ACAT1):c.436-4G>A rs3741050
NM_000019.4(ACAT1):c.471C>A (p.Ser157=) rs35188041
NM_000019.4(ACAT1):c.480A>G (p.Pro160=) rs141131039
NM_000019.4(ACAT1):c.60G>C (p.Arg20=) rs77311724
NM_000019.4(ACAT1):c.858G>A (p.Leu286=)
NM_000019.4(ACAT1):c.903G>A (p.Ala301=) rs75811190
NM_000019.4(ACAT1):c.978A>C (p.Pro326=) rs73559264

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.