ClinVar Miner

List of variants studied for Mitochondrial DNA depletion syndrome, myopathic form by The Molecular Genetic and Pathologic Diagnosis Center of Neuromuscular Disorder, Children's Hospital of Fudan University

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Total variants: 4
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HGVS dbSNP gnomAD frequency
NM_004614.5(TK2):c.497A>T (p.Asp166Val) rs921593414 0.00001
NM_004614.5(TK2):c.659T>C (p.Leu220Pro) rs1168827071 0.00001
NM_004614.5(TK2):c.144_145del (p.Lys50fs) rs1454450104
NM_004614.5(TK2):c.328C>T (p.Gln110Ter) rs1965109135

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