ClinVar Miner

List of variants reported as pathogenic for Mitochondrial complex I deficiency

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Total variants: 10
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NM_002495.4(NDUFS4):c.316C>T (p.Arg106Ter) rs104893898
NM_007103.4(NDUFV1):c.1118T>C (p.Phe373Ser) rs1135402749
NM_007103.4(NDUFV1):c.1268C>T (p.Thr423Met) rs121913659
NM_014165.4(NDUFAF4):c.194T>C (p.Leu65Pro) rs63751061
NM_015965.7(NDUFA13):c.170G>A (p.Arg57His) rs752513525
NM_017547.4(FOXRED1):c.406C>T (p.Arg136Trp) rs373075574
m.11777C>A rs28384199
m.4810G>A rs267606888
m.5132_5133delAA rs199476116

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