ClinVar Miner

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

Included ClinVar conditions (2):
Minimum submission review status: Collection method:
Minimum conflict level:
Gene type:
ClinVar version:
Total variants: 5
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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.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

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