List of variants reported as pathogenic for mitochondrial DNA depletion syndrome by Department of Pathophysiology and Transplantation, University of Milan

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Total variants: 4

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HGVS	dbSNP	gnomAD frequency
NM_001953.5(TYMP):c.622G>A (p.Val208Met)	rs121913039	0.00027
NM_001953.5(TYMP):c.866A>C (p.Glu289Ala)	rs121913036	0.00005
NM_001953.5(TYMP):c.1160-1G>A	rs797044455	0.00004
NM_001953.5(TYMP):c.1159+2T>A	rs770277446

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