ClinVar Miner

List of variants in gene AMACR, C1QTNF3-AMACR, SLC45A2 studied 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: 9
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HGVS dbSNP
NM_014324.6(AMACR):c.*1070C>T rs16892064
NM_014324.6(AMACR):c.*1144A>G rs840380
NM_014324.6(AMACR):c.*1961G>A rs113746028
NM_014324.6(AMACR):c.*227T>G rs6863560
NM_014324.6(AMACR):c.*617G>T rs12659370
NM_014324.6(AMACR):c.*663G>A rs15612
NM_014324.6(AMACR):c.*963C>T rs6898962
NM_014324.6(AMACR):c.*982C>T rs16892066
NM_014324.6(AMACR):c.829G>A (p.Glu277Lys) rs2278008

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