ClinVar Miner

List of variants reported as uncertain significance for Alpha-methylacyl-CoA racemase deficiency by Illumina Laboratory Services, Illumina

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Total variants: 48
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HGVS dbSNP gnomAD frequency
NM_014324.5(AMACR):c.-70G>A rs563347179 0.00386
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.*1942C>T rs543725887 0.00092
NM_014324.6(AMACR):c.554T>C (p.Val185Ala) rs145786819 0.00084
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.*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.*1643T>C rs537161888 0.00012
NM_014324.6(AMACR):c.*523C>T rs575264685 0.00010
NM_014324.6(AMACR):c.511C>T (p.Arg171Cys) rs773780945 0.00010
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.*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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