ClinVar Miner

List of variants studied for alpha-methylacyl-CoA racemase deficiency by Illumina Laboratory Services, Illumina

Included ClinVar conditions (3):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 78
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HGVS dbSNP gnomAD frequency
NM_014324.6(AMACR):c.829G>A (p.Glu277Lys) rs2278008 0.75062
NM_014324.6(AMACR):c.602T>C (p.Leu201Ser) rs2287939 0.73966
NM_014324.6(AMACR):c.25G>A (p.Val9Met) rs3195676 0.42007
NM_014324.6(AMACR):c.524G>A (p.Gly175Asp) rs10941112 0.38660
NM_014324.6(AMACR):c.*663G>A rs15612 0.21767
NM_014324.6(AMACR):c.717G>T (p.Gln239His) rs34677 0.11264
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.353G>A (p.Arg118Gln) rs16892150 0.03193
NM_014324.6(AMACR):c.*1961G>A rs113746028 0.02910
NM_014324.6(AMACR):c.712C>T (p.Pro238Ser) rs9282594 0.02606
NM_014324.6(AMACR):c.*1144A>G rs840380 0.02385
NM_014324.6(AMACR):c.782T>C (p.Met261Thr) rs3195678 0.01320
NM_014324.6(AMACR):c.*982C>T rs16892066 0.01163
NM_014324.6(AMACR):c.*1727G>T rs116333833 0.00932
NM_014324.6(AMACR):c.*1804G>T rs116206502 0.00859
NM_014324.6(AMACR):c.*976G>A rs150664086 0.00754
NM_014324.6(AMACR):c.*753T>G rs140021599 0.00704
NM_014324.5(AMACR):c.-70G>A rs563347179 0.00386
NM_014324.6(AMACR):c.837G>A (p.Thr279=) rs35655488 0.00378
NM_014324.6(AMACR):c.*1945A>G rs79880451 0.00225
NM_014324.6(AMACR):c.*1852C>T rs563065271 0.00137
NM_014324.6(AMACR):c.*2044C>A rs529140346 0.00135
NM_014324.6(AMACR):c.-22C>G rs35448266 0.00123
NM_014324.6(AMACR):c.*2088A>T rs182361997 0.00114
NM_014324.6(AMACR):c.*1203A>G rs190329271 0.00108
NM_014324.6(AMACR):c.*1942C>T rs543725887 0.00092
NM_014324.6(AMACR):c.554T>C (p.Val185Ala) rs145786819 0.00084
NM_014324.6(AMACR):c.*1928T>C rs531992128 0.00079
NM_014324.6(AMACR):c.*714T>C rs143877467 0.00072
NM_014324.6(AMACR):c.*1110G>T rs141969465 0.00053
NM_014324.6(AMACR):c.154T>C (p.Ser52Pro) rs121917814 0.00049
NM_014324.6(AMACR):c.*1366A>G rs530507195 0.00032
NM_014324.6(AMACR):c.*233T>C rs557294515 0.00023
NM_014324.6(AMACR):c.783G>A (p.Met261Ile) rs9282593 0.00022
NM_014324.6(AMACR):c.*1032G>C rs550891172 0.00021
NM_014324.6(AMACR):c.844G>C (p.Glu282Gln) rs181341030 0.00014
NM_014324.6(AMACR):c.438G>A (p.Pro146=) rs140523570 0.00013
NM_014324.6(AMACR):c.*1643T>C rs537161888 0.00012
NM_014324.6(AMACR):c.*523C>T rs575264685 0.00010
NM_014324.6(AMACR):c.*449T>C rs550502356 0.00007
NM_014324.6(AMACR):c.*1353G>A rs886060525 0.00006
NM_014324.6(AMACR):c.*1560G>A rs886060524 0.00006
NM_014324.6(AMACR):c.247+9G>T rs1361255226 0.00006
NM_014324.6(AMACR):c.*1931G>C rs563332854 0.00005
NM_014324.6(AMACR):c.511C>T (p.Arg171Cys) rs773780945 0.00005
NM_014324.6(AMACR):c.*1862C>T rs1016774406 0.00004
NM_014324.6(AMACR):c.*540T>C rs146385238 0.00004
NM_014324.6(AMACR):c.100G>C (p.Val34Leu) rs377618695 0.00004
NM_014324.6(AMACR):c.*1853G>A rs886060522 0.00003
NM_014324.6(AMACR):c.1001C>T (p.Thr334Ile) rs368693738 0.00003
NM_014324.5(AMACR):c.-40G>A rs553007226 0.00001
NM_014324.6(AMACR):c.*1181G>A rs886060526 0.00001
NM_014324.6(AMACR):c.*1367T>C rs752473789 0.00001
NM_014324.6(AMACR):c.*1622T>C rs886060523 0.00001
NM_014324.6(AMACR):c.*1875C>T rs1006230629 0.00001
NM_014324.6(AMACR):c.1051G>A (p.Glu351Lys) rs761488582 0.00001
NM_014324.6(AMACR):c.1137A>T (p.Lys379Asn) rs1484335138 0.00001
NM_014324.6(AMACR):c.123C>G (p.Tyr41Ter) rs1561047456 0.00001
NM_014324.6(AMACR):c.366C>T (p.His122=) rs775128044 0.00001
NM_014324.6(AMACR):c.48G>A (p.Pro16=) rs144271819 0.00001
NM_014324.6(AMACR):c.710A>G (p.Glu237Gly) rs553965377 0.00001
NM_014324.6(AMACR):c.841G>C (p.Ala281Pro) rs371707295 0.00001
NM_014324.6(AMACR):c.*1178G>A rs886060527
NM_014324.6(AMACR):c.*1764A>C rs1383745386
NM_014324.6(AMACR):c.*1985G>A rs971469605
NM_014324.6(AMACR):c.*2093A>G rs886060521
NM_014324.6(AMACR):c.*439A>G rs533094975
NM_014324.6(AMACR):c.*573dup rs886060528
NM_014324.6(AMACR):c.*805C>A rs367582757
NM_014324.6(AMACR):c.27G>A (p.Val9=) rs780679627
NM_014324.6(AMACR):c.289C>A (p.Arg97=) rs757072374
NM_014324.6(AMACR):c.553-5C>A rs1753722683
NM_014324.6(AMACR):c.740-5C>G rs770927461
NM_014324.6(AMACR):c.889G>A (p.Val297Ile) rs886060530
NM_014324.6(AMACR):c.937G>A (p.Gly313Ser) rs886060529

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