ClinVar Miner

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

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Total variants: 33
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HGVS dbSNP
NM_001166159.1(NDUFS2):c.*330_*331GT[14] rs10629771
NM_001166159.1(NDUFS2):c.*330_*331GT[16] rs10629771
NM_001166159.1(NDUFS2):c.*330_*331GT[18] rs10629771
NM_004550.4(NDUFS2):c.*108A>T rs191955041
NM_004550.4(NDUFS2):c.*108_*109dup rs886045468
NM_004550.4(NDUFS2):c.*114A>G rs1136224
NM_004550.4(NDUFS2):c.*187G>A rs886045469
NM_004550.4(NDUFS2):c.*71_*76delinsTGCGTCTGTGTGTG rs886045465
NM_004550.4(NDUFS2):c.-20C>T rs201554004
NM_004550.4(NDUFS2):c.-28C>T rs886045458
NM_004550.4(NDUFS2):c.1054C>G (p.Pro352Ala) rs11576415
NM_004550.4(NDUFS2):c.1212+7A>G rs36233987
NM_004550.4(NDUFS2):c.1213-9del rs750838845
NM_004550.4(NDUFS2):c.1215A>G (p.Gly405=) rs886045464
NM_004550.4(NDUFS2):c.1290C>T (p.Ala430=) rs1136207
NM_004550.4(NDUFS2):c.1354+10C>A rs201275792
NM_004550.4(NDUFS2):c.1354+5G>A rs190184430
NM_004550.4(NDUFS2):c.162A>G (p.Pro54=) rs569128565
NM_004550.4(NDUFS2):c.337A>G (p.Ile113Val) rs754241926
NM_004550.4(NDUFS2):c.441C>T (p.Asn147=) rs140324736
NM_004550.4(NDUFS2):c.495_496del (p.Arg166fs) rs1558084765
NM_004550.4(NDUFS2):c.514+11C>T rs76309459
NM_004550.4(NDUFS2):c.515-3C>A rs149789018
NM_004550.4(NDUFS2):c.58C>A (p.Pro20Thr) rs11538340
NM_004550.4(NDUFS2):c.628-12C>T rs202121443
NM_004550.4(NDUFS2):c.702+14_702+17dup rs776704187
NM_004550.4(NDUFS2):c.867T>C (p.Ser289=) rs886045461
NM_004550.4(NDUFS2):c.875T>C (p.Met292Thr) rs150667550
NM_004550.4(NDUFS2):c.903C>T (p.Asp301=) rs886045462
NM_004550.4(NDUFS2):c.95+14C>T rs751472475
NM_004550.4(NDUFS2):c.959T>C (p.Val320Ala) rs144937332
NM_004550.4(NDUFS2):c.986+12A>G rs11265565
NM_004550.4(NDUFS2):c.98G>A (p.Gly33Asp) rs886045459

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