List of variants reported as pathogenic for Mitochondrial complex I deficiency, nuclear type 1

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Total variants: 17

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HGVS	dbSNP	gnomAD frequency
NM_199069.2(NDUFAF3):c.188dup (p.Tyr63Ter)	rs756339822	0.00023
NM_007103.4(NDUFV1):c.1162+4A>C	rs199683937	0.00005
NM_007103.4(NDUFV1):c.1268C>T (p.Thr423Met)	rs121913659	0.00004
NM_174889.5(NDUFAF2):c.114C>G (p.Tyr38Ter)	rs199754807	0.00003
NM_002495.4(NDUFS4):c.99-1G>A	rs376281345	0.00001
NM_005006.7(NDUFS1):c.64C>T (p.Arg22Ter)	rs750971390	0.00001
NM_002495.4(NDUFS4):c.221del (p.Thr74fs)
NM_002495.4(NDUFS4):c.291del (p.Lys96_Trp97insTer)	rs121908985
NM_002495.4(NDUFS4):c.316C>T (p.Arg106Ter)	rs104893898
NM_002495.4(NDUFS4):c.350+1G>A	rs1260453815
NM_002495.4(NDUFS4):c.350+5G>A	rs1751865973
NM_002495.4(NDUFS4):c.393dup (p.Glu132fs)
NM_002495.4(NDUFS4):c.44G>A (p.Trp15Ter)	rs104893899
NM_002495.4(NDUFS4):c.462del (p.Lys154fs)	rs587776949
NM_002495.4(NDUFS4):c.466_470dup (p.Lys158fs)	rs1445075330
NM_017547.4(FOXRED1):c.612_615dup (p.Ala206fs)	rs398124308
NM_018480.7(TMEM126B):c.320_321del (p.Tyr107fs)	rs752316853

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