List of variants reported as pathogenic for Mitochondrial DNA depletion syndrome

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Total variants: 15

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HGVS	dbSNP	gnomAD frequency
NM_002693.3(POLG):c.2542G>A (p.Gly848Ser)	rs113994098	0.00028
NM_002437.5(MPV17):c.191C>G (p.Pro64Arg)	rs375401970	0.00008
NM_004614.5(TK2):c.416C>T (p.Ala139Val)	rs281865494	0.00008
NM_002437.5(MPV17):c.293C>T (p.Pro98Leu)	rs267607258	0.00006
NM_001278716.2(FBXL4):c.1303C>T (p.Arg435Ter)	rs201889294	0.00004
NM_002437.5(MPV17):c.149G>A (p.Arg50Gln)	rs121909721	0.00003
NM_002437.5(MPV17):c.122G>A (p.Arg41Gln)	rs140992482	0.00001
NM_002437.5(MPV17):c.70+5G>A	rs267607268	0.00001
NM_002693.3(POLG):c.2558G>A (p.Arg853Gln)	rs796052888	0.00001
NC_000002.11:g.(27535977_27545314)_(27545965_?)del
NM_002437.5(MPV17):c.268TTG[1] (p.Leu91del)	rs267607264
NM_002693.3(POLG):c.2864A>G (p.Tyr955Cys)	rs113994099
NM_004614.5(TK2):c.360_361delinsAA (p.His121Asn)	rs281865507
NM_004614.5(TK2):c.547C>T (p.Arg183Trp)	rs137886900
NM_004614.5(TK2):c.604_606del (p.Lys202del)	rs281865501

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