ClinVar Miner

List of variants reported as benign for alpha-methylacyl-CoA racemase deficiency by Illumina Clinical Services Laboratory,Illumina

Included ClinVar conditions (2):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 6
Download table as spreadsheet
HGVS dbSNP
NM_014324.6(AMACR):c.*227T>G rs6863560
NM_014324.6(AMACR):c.*663G>A rs15612
NM_014324.6(AMACR):c.25G>A (p.Val9Met) rs3195676
NM_014324.6(AMACR):c.524G>A (p.Gly175Asp) rs10941112
NM_014324.6(AMACR):c.602T>C (p.Leu201Ser) rs2287939
NM_014324.6(AMACR):c.829G>A (p.Glu277Lys) rs2278008

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.