List of variants reported as pathogenic for Mitochondrial complex I deficiency

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Total variants: 17

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HGVS	dbSNP	gnomAD frequency
NM_018480.7(TMEM126B):c.635G>T (p.Gly212Val)	rs141542003	0.00103
NM_014049.5(ACAD9):c.1552C>T (p.Arg518Cys)	rs150283105	0.00014
NM_007103.4(NDUFV1):c.1268C>T (p.Thr423Met)	rs121913659	0.00004
NM_014049.5(ACAD9):c.1237G>A (p.Glu413Lys)	rs149753643	0.00002
NM_014049.5(ACAD9):c.1594C>T (p.Arg532Trp)	rs377022708	0.00001
NM_015965.7(NDUFA13):c.170G>A (p.Arg57His)	rs752513525	0.00001
NM_017547.4(FOXRED1):c.406C>T (p.Arg136Trp)	rs373075574	0.00001
NC_012920.1(MT-ND2):m.4810G>A	rs267606888
NC_012920.1(MT-ND2):m.5133_5134del	rs199476116
NC_012920.1(MT-ND4):m.11777C>A	rs28384199
NM_002495.4(NDUFS4):c.316C>T (p.Arg106Ter)	rs104893898
NM_007103.4(NDUFV1):c.1118T>C (p.Phe373Ser)	rs1135402749
NM_014049.5(ACAD9):c.359del (p.Phe120fs)	rs863224844
NM_014049.5(ACAD9):c.744_747del (p.Arg249fs)
NM_014049.5(ACAD9):c.976G>C (p.Ala326Pro)	rs115532916
NM_014165.4(NDUFAF4):c.194T>C (p.Leu65Pro)	rs63751061
NM_025152.2(NUBPL):c.[166G>A;815-27T>C]

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