ClinVar Miner

List of variants studied 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: 46
Download table as spreadsheet
HGVS dbSNP
NM_014324.5(AMACR):c.-40G>A rs553007226
NM_014324.5(AMACR):c.-70G>A rs563347179
NM_014324.6(AMACR):c.*1070C>T rs16892064
NM_014324.6(AMACR):c.*1144A>G rs840380
NM_014324.6(AMACR):c.*1178G>A rs886060527
NM_014324.6(AMACR):c.*1181G>A rs886060526
NM_014324.6(AMACR):c.*1353G>A rs886060525
NM_014324.6(AMACR):c.*1367T>C rs752473789
NM_014324.6(AMACR):c.*1560G>A rs886060524
NM_014324.6(AMACR):c.*1622T>C rs886060523
NM_014324.6(AMACR):c.*1643T>C rs537161888
NM_014324.6(AMACR):c.*1727G>T rs116333833
NM_014324.6(AMACR):c.*1804G>T rs116206502
NM_014324.6(AMACR):c.*1853G>A rs886060522
NM_014324.6(AMACR):c.*1942C>T rs543725887
NM_014324.6(AMACR):c.*1945A>G rs79880451
NM_014324.6(AMACR):c.*1961G>A rs113746028
NM_014324.6(AMACR):c.*2044C>A rs529140346
NM_014324.6(AMACR):c.*2088A>T rs182361997
NM_014324.6(AMACR):c.*2093A>G rs886060521
NM_014324.6(AMACR):c.*227T>G rs6863560
NM_014324.6(AMACR):c.*233T>C rs557294515
NM_014324.6(AMACR):c.*449T>C rs550502356
NM_014324.6(AMACR):c.*540T>C rs146385238
NM_014324.6(AMACR):c.*573dup rs886060528
NM_014324.6(AMACR):c.*617G>T rs12659370
NM_014324.6(AMACR):c.*663G>A rs15612
NM_014324.6(AMACR):c.*714T>C rs143877467
NM_014324.6(AMACR):c.*753T>G rs140021599
NM_014324.6(AMACR):c.*963C>T rs6898962
NM_014324.6(AMACR):c.*976G>A rs150664086
NM_014324.6(AMACR):c.*982C>T rs16892066
NM_014324.6(AMACR):c.123C>G (p.Tyr41Ter) rs1561047456
NM_014324.6(AMACR):c.154T>C (p.Ser52Pro) rs121917814
NM_014324.6(AMACR):c.25G>A (p.Val9Met) rs3195676
NM_014324.6(AMACR):c.353G>A (p.Arg118Gln) rs16892150
NM_014324.6(AMACR):c.48G>A (p.Pro16=) rs144271819
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.712C>T (p.Pro238Ser) rs9282594
NM_014324.6(AMACR):c.717G>T (p.Gln239His) rs34677
NM_014324.6(AMACR):c.740-5C>G rs770927461
NM_014324.6(AMACR):c.782T>C (p.Met261Thr) rs3195678
NM_014324.6(AMACR):c.829G>A (p.Glu277Lys) rs2278008
NM_014324.6(AMACR):c.889G>A (p.Val297Ile) rs886060530
NM_014324.6(AMACR):c.937G>A (p.Gly313Ser) rs886060529

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.