ClinVar Miner

List of variants reported as uncertain significance for Mitochondrial complex I deficiency

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Total variants: 97
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HGVS dbSNP gnomAD frequency
NM_002496.4(NDUFS8):c.*40A>G rs61329983 0.02403
NM_004541.4(NDUFA1):c.94G>C (p.Gly32Arg) rs1801316 0.00694
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_024120.5(NDUFAF5):c.190G>A (p.Glu64Lys) rs147117631 0.00111
NM_024120.5(NDUFAF5):c.1029A>G (p.Lys343=) rs146052819 0.00106
NM_024120.5(NDUFAF5):c.585T>C (p.Tyr195=) rs150955045 0.00104
NM_002496.3(NDUFS8):c.-76C>T rs544094420 0.00065
NM_021074.4(NDUFV2):c.-94A>T rs552940397 0.00063
NM_024120.5(NDUFAF5):c.178G>A (p.Ala60Thr) rs146837138 0.00036
NM_025152.3(NUBPL):c.*1053G>A rs546991443 0.00034
NM_004544.3(NDUFA10):c.-87A>C rs886055827 0.00031
NM_004553.6(NDUFS6):c.257C>T (p.Ala86Val) rs192286856 0.00028
NM_004553.6(NDUFS6):c.198C>T (p.Asn66=) rs140887831 0.00021
NM_004544.4(NDUFA10):c.749+11C>T rs200760509 0.00019
NM_021074.4(NDUFV2):c.-83C>T rs540830035 0.00019
NM_024120.5(NDUFAF5):c.245G>A (p.Arg82His) rs376456360 0.00018
NM_005006.7(NDUFS1):c.908C>G (p.Thr303Ser) rs75666426 0.00016
NM_004544.4(NDUFA10):c.*389C>T rs539829771 0.00014
NM_007103.4(NDUFV1):c.1188G>A (p.Met396Ile) rs142050639 0.00014
NM_014324.6(AMACR):c.844G>C (p.Glu282Gln) rs181341030 0.00014
NM_024120.5(NDUFAF5):c.752T>C (p.Met251Thr) rs200199681 0.00014
NM_004553.6(NDUFS6):c.25C>T (p.Arg9Trp) rs376509886 0.00013
NM_004553.6(NDUFS6):c.31C>G (p.Leu11Val) rs755222875 0.00011
NM_174889.4(NDUFAF2):c.-63G>T rs886060724 0.00011
NM_007103.4(NDUFV1):c.1157G>A (p.Arg386His) rs536758576 0.00009
NM_007103.4(NDUFV1):c.1378C>T (p.Arg460Trp) rs372047256 0.00009
NM_004551.2(NDUFS3):c.-30C>T rs375483884 0.00008
NM_004553.6(NDUFS6):c.229G>A (p.Val77Met) rs187737486 0.00007
NM_004553.6(NDUFS6):c.336C>T (p.Cys112=) rs149406977 0.00006
NM_007103.4(NDUFV1):c.1022C>T (p.Ala341Val) rs121913660 0.00006
NM_174889.4(NDUFAF2):c.-66G>C rs376045901 0.00006
NM_024120.5(NDUFAF5):c.1020G>A (p.Pro340=) rs745871040 0.00005
NM_199069.2(NDUFAF3):c.180_181insT (p.Asp61Ter) rs752864722 0.00004
NM_002496.4(NDUFS8):c.64C>T (p.Pro22Ser) rs369602258 0.00003
NM_007103.4(NDUFV1):c.1080G>A (p.Ser360=) rs201992354 0.00002
NM_024120.5(NDUFAF5):c.836T>G (p.Met279Arg) rs761389904 0.00002
NM_002495.4(NDUFS4):c.355G>C (p.Asp119His) rs747359752 0.00001
NM_004551.2(NDUFS3):c.-41T>C rs750965789 0.00001
NM_004551.3(NDUFS3):c.596G>A (p.Arg199Gln) rs771783839 0.00001
NM_004553.6(NDUFS6):c.306C>T (p.Asn102=) rs773991515 0.00001
NM_004553.6(NDUFS6):c.353A>G (p.Gln118Arg) rs748728259 0.00001
NM_005006.7(NDUFS1):c.1249A>G (p.Arg417Gly) rs1127567 0.00001
NM_005006.7(NDUFS1):c.2129G>A (p.Cys710Tyr) rs765677840 0.00001
NM_007103.4(NDUFV1):c.414G>T (p.Leu138=) rs148461900 0.00001
NM_016013.4(NDUFAF1):c.901A>T (p.Ile301Phe) rs759274620 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_001193375.3(NDUFA11):c.314-1391GT[4] rs755637853
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_002496.3(NDUFS8):c.-98G>A rs886048591
NM_004544.4(NDUFA10):c.*1894_*1914delinsGGG rs886055819
NM_004544.4(NDUFA10):c.*2397A>G rs886055816
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_007103.4(NDUFV1):c.731A>T (p.Asn244Ile) rs1235686151
NM_014049.5(ACAD9):c.959-3C>G rs1553731751
NM_014165.4(NDUFAF4):c.-32del rs886061831
NM_017547.4(FOXRED1):c.568C>T (p.Pro190Ser) rs1555065162
NM_017547.4(FOXRED1):c.632G>C (p.Gly211Ala) rs536400690
NM_024120.5(NDUFAF5):c.114C>A (p.Ser38Arg) rs369277594
NM_024120.5(NDUFAF5):c.25C>G (p.Arg9Gly) rs768566143
NM_024120.5(NDUFAF5):c.92C>T (p.Ser31Phe) rs375461797
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_025152.3(NUBPL):c.349A>G (p.Met117Val) rs773620793
NM_174889.4(NDUFAF2):c.-110A>C rs886060723
NM_174889.5(NDUFAF2):c.-23GC[3] rs886060725
NM_175614.4(NDUFA11):c.-205_-204CT[2] rs759857076
NM_199069.1(NDUFAF3):c.-118G>A rs886058666
Single allele

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