ClinVar Miner

List of variants reported as likely pathogenic for classic organic aciduria by Illumina Clinical Services Laboratory,Illumina

Included ClinVar conditions (39):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 7
Download table as spreadsheet
NM_000282.4(PCCA):c.1284+1G>A rs752761437
NM_001370658.1(BTD):c.641C>T (p.Thr214Ile) rs587783005
NM_001609.4(ACADSB):c.303+1G>A rs147936696
NM_014384.2(ACAD8):c.1129G>A (p.Gly377Ser) rs121908419
NM_014384.2(ACAD8):c.958G>A (p.Ala320Thr) rs200620279
NM_022132.5(MCCC2):c.1015G>A (p.Val339Met) rs150591260
NM_022132.5(MCCC2):c.1423G>A (p.Gly475Arg) rs148773718

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.