ClinVar Miner

List of variants reported as pathogenic for Mitochondrial DNA depletion syndrome, myopathic form by Mendelics

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Total variants: 3

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HGVS	dbSNP	gnomAD frequency
NM_004614.5(TK2):c.414C>A (p.Ser138Arg)	rs773566302
NM_004614.5(TK2):c.557C>G (p.Pro186Arg)
NM_004614.5(TK2):c.692C>T (p.Pro231Leu)	rs2144339570

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