ClinVar Miner

List of variants reported as likely pathogenic for Mitochondrial complex I deficiency

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Total variants: 14
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NM_002491.3(NDUFB3):c.64T>C (p.Trp22Arg) rs142609245
NM_004550.4(NDUFS2):c.875T>C (p.Met292Thr) rs150667550
NM_004551.3(NDUFS3):c.374G>A (p.Arg125His) rs138867882
NM_004551.3(NDUFS3):c.596G>A (p.Arg199Gln) rs771783839
NM_007103.4(NDUFV1):c.1268C>T (p.Thr423Met) rs121913659
NM_007103.4(NDUFV1):c.166T>C (p.Ser56Pro) rs201727685
NM_007103.4(NDUFV1):c.383G>A (p.Arg128Gln)
NM_012140.5(SLC25A10):c.304A>T (p.Lys102Ter) rs1555703272
NM_017547.4(FOXRED1):c.612_615dup (p.Ala206fs) rs398124308
NM_017547.4(FOXRED1):c.632G>C (p.Gly211Ala) rs536400690
NM_024120.5(NDUFAF5):c.749G>T (p.Gly250Val) rs757043077
NM_025152.3(NUBPL):c.311T>C (p.Leu104Pro) rs201430951
NM_025152.3(NUBPL):c.815-27T>C rs118161496

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