ClinVar Miner

List of variants studied for Mitochondrial complex I deficiency by Illumina Laboratory Services, Illumina

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Total variants: 78
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HGVS dbSNP gnomAD frequency
NM_174889.4(NDUFAF2):c.-97A>G rs158922 0.66969
NM_002496.4(NDUFS8):c.*14C>T rs1051806 0.18509
NM_004544.4(NDUFA10):c.*1923_*1924insA rs138899326 0.11754
NC_000018.10:g.9134356C>G rs12454908 0.11308
NM_025152.3(NUBPL):c.*537dup rs200626091 0.09955
NM_000156.6(GAMT):c.*276C>T rs266810 0.07427
NM_000156.6(GAMT):c.*146A>C rs659455 0.07418
NM_000156.6(GAMT):c.*151T>C rs659460 0.07383
NM_000156.6(GAMT):c.626C>T (p.Thr209Met) rs17851582 0.07010
NM_000156.6(GAMT):c.*311C>G rs266811 0.06572
NM_000156.6(GAMT):c.571-6G>A rs2074899 0.03927
NM_002496.4(NDUFS8):c.*40A>G rs61329983 0.02403
NM_004544.3(NDUFA10):c.-92C>T rs559797625 0.00474
NM_004544.3(NDUFA10):c.-93G>T rs577432343 0.00460
NM_014165.4(NDUFAF4):c.*1053A>G rs74905648 0.00243
NM_002496.3(NDUFS8):c.-76C>T rs544094420 0.00065
NM_021074.4(NDUFV2):c.-94A>T rs552940397 0.00063
NM_025152.3(NUBPL):c.*1053G>A rs546991443 0.00034
NM_004544.3(NDUFA10):c.-87A>C rs886055827 0.00031
NM_004544.4(NDUFA10):c.749+11C>T rs200760509 0.00019
NM_021074.4(NDUFV2):c.-83C>T rs540830035 0.00019
NM_004544.4(NDUFA10):c.*389C>T rs539829771 0.00014
NM_007103.4(NDUFV1):c.1188G>A (p.Met396Ile) rs142050639 0.00014
NM_001377299.1(NDUFS2):c.875T>C (p.Met292Thr) rs150667550 0.00011
NM_174889.4(NDUFAF2):c.-63G>T rs886060724 0.00011
NM_007103.4(NDUFV1):c.1378C>T (p.Arg460Trp) rs372047256 0.00009
NM_004551.2(NDUFS3):c.-30C>T rs375483884 0.00008
NM_174889.4(NDUFAF2):c.-66G>C rs376045901 0.00006
NM_002496.4(NDUFS8):c.64C>T (p.Pro22Ser) rs369602258 0.00003
NM_004551.2(NDUFS3):c.-41T>C rs750965789 0.00001
NM_007103.4(NDUFV1):c.414G>T (p.Leu138=) rs148461900 0.00001
NM_021074.4(NDUFV2):c.-98G>T rs886054123 0.00001
NM_025152.2(NUBPL):c.-39G>A rs886050446 0.00001
NM_174889.5(NDUFAF2):c.18T>G (p.Asp6Glu) rs886060726 0.00001
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
NM_002495.4(NDUFS4):c.351-11_351-8del rs375549253
NM_002495.4(NDUFS4):c.424+19dup rs140172554
NM_002496.3(NDUFS8):c.-98G>A rs886048591
NM_004544.4(NDUFA10):c.*1894_*1914delinsGGG rs886055819
NM_004544.4(NDUFA10):c.*2397A>G rs886055816
NM_004544.4(NDUFA10):c.1000-5del rs138479490
NM_005006.7(NDUFS1):c.*846del rs58253838
NM_005006.7(NDUFS1):c.*846dup rs58253838
NM_005006.7(NDUFS1):c.*93dup rs200446477
NM_005006.7(NDUFS1):c.1393-7del rs760292289
NM_005006.7(NDUFS1):c.154-10_154-9del rs568965659
NM_005006.7(NDUFS1):c.262-15del rs34184317
NM_005006.7(NDUFS1):c.262-15dup rs34184317
NM_014165.4(NDUFAF4):c.-32del rs886061831
NM_014165.4(NDUFAF4):c.241-18dup rs34213186
NM_024407.5(NDUFS7):c.*13C>A rs11551663
NM_024407.5(NDUFS7):c.*3CCG[4] rs3065757
NM_024407.5(NDUFS7):c.*3CCG[5] rs3065757
NM_025152.3(NUBPL):c.*1119_*1120insA rs886050456
NM_025152.3(NUBPL):c.*1121_*1123del rs886050458
NM_025152.3(NUBPL):c.*1121dup rs886050457
NM_025152.3(NUBPL):c.*1122_*1124del rs886050460
NM_025152.3(NUBPL):c.*1122dup rs886050459
NM_025152.3(NUBPL):c.*1144_*1147del rs34847511
NM_025152.3(NUBPL):c.*1145_*1148del rs886050463
NM_025152.3(NUBPL):c.*1146_*1148del rs886050464
NM_025152.3(NUBPL):c.*1147dup rs34847511
NM_025152.3(NUBPL):c.*1148del rs886050465
NM_025152.3(NUBPL):c.*1149_*1150insA rs886050466
NM_025152.3(NUBPL):c.*1155dup rs886050467
NM_174889.4(NDUFAF2):c.-110A>C rs886060723
NM_174889.4(NDUFAF2):c.-91C>T rs4647036
NM_174889.5(NDUFAF2):c.-23GC[3] rs886060725
NM_175614.4(NDUFA11):c.*69_*70delGT rs755637853
NM_175614.4(NDUFA11):c.-205_-204CT[2] rs759857076
NM_199069.1(NDUFAF3):c.-118G>A rs886058666

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