List of variants reported as pathogenic for mitochondrial DNA depletion syndrome by Revvity Omics, Revvity

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Total variants: 4

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HGVS	dbSNP	gnomAD frequency
NM_001953.5(TYMP):c.866A>C (p.Glu289Ala)	rs121913036	0.00005
NM_001278716.2(FBXL4):c.1303C>T (p.Arg435Ter)	rs201889294	0.00004
NM_001278716.2(FBXL4):c.292C>T (p.Arg98Ter)	rs1554222130	0.00001
NM_001953.5(TYMP):c.928+1G>A	rs1064792876

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