ClinVar Miner

List of variants in gene NDUFS2 studied for Mitochondrial complex I deficiency

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Total variants: 9
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HGVS dbSNP gnomAD frequency
NM_001377299.1(NDUFS2):c.875T>C (p.Met292Thr) rs150667550 0.00011
NM_001377299.1(NDUFS2):c.*108_*109dup rs886045468
NM_001377299.1(NDUFS2):c.*71_*76delinsTGCGTCTGTGTGTG rs886045465
NM_001377299.1(NDUFS2):c.*78GT[14] rs10629771
NM_001377299.1(NDUFS2):c.*78GT[16] rs10629771
NM_001377299.1(NDUFS2):c.*78GT[18] rs10629771
NM_001377299.1(NDUFS2):c.1213-9del rs750838845
NM_001377299.1(NDUFS2):c.495_496del (p.Arg166fs) rs1558084765
NM_001377299.1(NDUFS2):c.702+14_702+17dup rs776704187

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