List of variants in gene AMACR, C1QTNF3-AMACR, SLC45A2 studied for Alpha-methylacyl-CoA racemase deficiency

Minimum submission review status:		Collection method:
Minimum conflict level: Report conflict between different conditions
Gene type: Distinguish antisense genes from sense genes
		ClinVar version:

Total variants: 9

Download table as spreadsheet

HGVS	dbSNP	gnomAD frequency
NM_014324.6(AMACR):c.829G>A (p.Glu277Lys)	rs2278008	0.75062
NM_014324.6(AMACR):c.*663G>A	rs15612	0.21767
NM_014324.6(AMACR):c.*227T>G	rs6863560	0.08265
NM_014324.6(AMACR):c.*963C>T	rs6898962	0.04660
NM_014324.6(AMACR):c.*617G>T	rs12659370	0.04114
NM_014324.6(AMACR):c.*1070C>T	rs16892064	0.03353
NM_014324.6(AMACR):c.*1961G>A	rs113746028	0.02910
NM_014324.6(AMACR):c.*1144A>G	rs840380	0.02385
NM_014324.6(AMACR):c.*982C>T	rs16892066	0.01163

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.