ClinVar Miner

List of variants studied for alpha-methylacyl-CoA racemase deficiency by Center for Precision Genome Editing and Genetic Technologies for Biomedicine, Pirogov Russian National Research Medical University

Included ClinVar conditions (3):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 1
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HGVS dbSNP gnomAD frequency
NM_014324.6(AMACR):c.511C>T (p.Arg171Cys) rs773780945 0.00005

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