ClinVar Miner

List of variants reported as likely pathogenic for Mitochondrial DNA depletion syndrome 13 by Department of Genetics, Rouen University Hospital, Normandy Center for Genomic and Personalized Medicine

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Total variants: 2

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HGVS	dbSNP	gnomAD frequency
NM_001278716.2(FBXL4):c.64C>T (p.Arg22Ter)	rs200440128	0.00005
NM_001278716.2(FBXL4):c.1400_1401del (p.Asp466_Tyr467insTer)	rs1238870745

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