ClinVar Miner

List of variants in gene combination AMACR, C1QTNF3-AMACR, SLC45A2 reported as benign for Alpha-methylacyl-CoA racemase deficiency

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Total variants: 4
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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.*663G>A rs15612 0.21767
NM_014324.6(AMACR):c.*227T>G rs6863560 0.08265
NM_014324.6(AMACR):c.*617G>T rs12659370 0.04114

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