List of variants reported as likely pathogenic for mitochondrial DNA depletion syndrome by Genomics England Pilot Project, Genomics England

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Total variants: 6

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HGVS	dbSNP	gnomAD frequency
NM_002693.3(POLG):c.1760C>T (p.Pro587Leu)	rs113994096	0.00160
NM_002693.3(POLG):c.752C>T (p.Thr251Ile)	rs11394094	0.00159
NM_001278716.2(FBXL4):c.1288C>T (p.Arg430Ter)	rs758395213	0.00003
NM_002693.3(POLG):c.3505G>A (p.Gly1169Ser)	rs753864625	0.00001
NM_001278716.2(FBXL4):c.1750del (p.Cys584fs)	rs2128374874
NM_130837.3(OPA1):c.4_5+2del	rs754411271

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