ClinVar Miner

List of variants reported as benign 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: 13
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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.353G>A (p.Arg118Gln) rs16892150 0.03193
NM_014324.6(AMACR):c.712C>T (p.Pro238Ser) rs9282594 0.02606
NM_014324.6(AMACR):c.782T>C (p.Met261Thr) rs3195678 0.01320
NM_014324.6(AMACR):c.*1727G>T rs116333833 0.00932
NM_014324.6(AMACR):c.*753T>G rs140021599 0.00704
NM_014324.6(AMACR):c.*1852C>T rs563065271 0.00137

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