ClinVar Miner

List of variants reported as likely pathogenic for classic organic aciduria by Integrated Genetics/Laboratory Corporation of America

Included ClinVar conditions (39):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 5
Download table as spreadsheet
NM_000019.4(ACAT1):c.444_445del (p.Met148fs) rs727503795
NM_000019.4(ACAT1):c.473A>G (p.Asn158Ser) rs199524907
NM_000411.8(HLCS):c.1993C>T (p.Arg665Ter) rs146448211
NM_015506.3(MMACHC):c.507_519del (p.Glu170fs) rs1553162923
NM_015506.3(MMACHC):c.82-1G>A rs1255179780

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.