List of variants reported as pathogenic for mitochondrial DNA depletion syndrome by Molecular Medicine for Neurodegenerative and Neuromuscular Diseases Unit, IRCCS Fondazione Stella Maris

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Total variants: 2

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HGVS	dbSNP	gnomAD frequency
NM_006796.3(AFG3L2):c.2167G>A (p.Val723Met)	rs139469785	0.00024
NM_006796.3(AFG3L2):c.634dup (p.Val212fs)	rs2143196334

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