ClinVar Miner

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

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Total variants: 24
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HGVS dbSNP gnomAD frequency
NM_007103.4(NDUFV1):c.1268C>T (p.Thr423Met) rs121913659 0.00004
NM_174889.5(NDUFAF2):c.139C>T (p.Arg47Ter) rs137852863 0.00004
NM_002495.4(NDUFS4):c.355G>C (p.Asp119His) rs747359752 0.00001
NM_002495.4(NDUFS4):c.474_478dup (p.Tyr160fs) rs766516611 0.00001
NM_005006.7(NDUFS1):c.845A>G (p.Asn282Ser) rs1485032272 0.00001
NM_007103.4(NDUFV1):c.1156C>T (p.Arg386Cys) rs150966634 0.00001
NM_025152.3(NUBPL):c.2T>C (p.Met1Thr) rs567437692 0.00001
NM_002495.4(NDUFS4):c.136dup (p.Gln46fs)
NM_002495.4(NDUFS4):c.235del (p.Ile79fs)
NM_002495.4(NDUFS4):c.26del (p.Val9fs)
NM_002495.4(NDUFS4):c.319_322del (p.Trp107fs)
NM_002495.4(NDUFS4):c.342G>A (p.Trp114Ter)
NM_002495.4(NDUFS4):c.350+1G>T
NM_002495.4(NDUFS4):c.351-1G>C
NM_002495.4(NDUFS4):c.351-2A>C
NM_002495.4(NDUFS4):c.351-2A>G
NM_002495.4(NDUFS4):c.415G>T (p.Glu139Ter)
NM_002495.4(NDUFS4):c.424+2T>A
NM_002495.4(NDUFS4):c.424G>T (p.Gly142Ter)
NM_002495.4(NDUFS4):c.466_470dup (p.Lys158fs) rs1445075330
NM_002495.4(NDUFS4):c.472_476dup (p.Tyr160fs) rs1740730588
NM_002495.4(NDUFS4):c.479dup (p.Tyr160Ter)
NM_007103.4(NDUFV1):c.380A>G (p.Asp127Gly) rs1290684221
NM_016589.4(TIMMDC1):c.191_192del (p.Lys64fs)

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