ClinVar Miner

List of variants reported as likely benign for Mitochondrial complex I deficiency by Illumina Clinical Services Laboratory,Illumina

Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 79
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HGVS dbSNP
NM_000156.6(GAMT):c.*146A>C rs659455
NM_000156.6(GAMT):c.*151T>C rs659460
NM_000156.6(GAMT):c.*276C>T rs266810
NM_000156.6(GAMT):c.*311C>G rs266811
NM_000156.6(GAMT):c.571-6G>A rs2074899
NM_000156.6(GAMT):c.626C>T (p.Thr209Met) rs17851582
NM_002488.4(NDUFA2):c.-136A>G rs778594
NM_002488.4(NDUFA2):c.-48A>G rs778593
NM_002495.4(NDUFS4):c.*46G>A rs567
NM_002495.4(NDUFS4):c.424+19dup rs140172554
NM_002496.4(NDUFS8):c.*14C>T rs1051806
NM_004544.4(NDUFA10):c.*1189C>T rs66534347
NM_004544.4(NDUFA10):c.*1229C>G rs55998047
NM_004544.4(NDUFA10):c.*1923_*1924insA rs138899326
NM_004544.4(NDUFA10):c.*1957G>A rs4854069
NM_004544.4(NDUFA10):c.*2309G>A rs1132778
NM_004544.4(NDUFA10):c.*2602C>T rs58261980
NM_004544.4(NDUFA10):c.*308C>T rs8369
NM_004544.4(NDUFA10):c.*3204C>T rs34277046
NM_004544.4(NDUFA10):c.*3450G>A rs7573892
NM_004544.4(NDUFA10):c.*407C>T rs74614612
NM_004544.4(NDUFA10):c.*414G>A rs13424612
NM_004544.4(NDUFA10):c.*438C>T rs13396556
NM_004544.4(NDUFA10):c.*631C>T rs10933622
NM_004544.4(NDUFA10):c.1000-5del rs138479490
NM_004544.4(NDUFA10):c.105A>G (p.Lys35=) rs2083411
NM_004544.4(NDUFA10):c.24G>A (p.Leu8=) rs113012830
NM_004544.4(NDUFA10):c.5C>G (p.Ala2Gly) rs11541494
NM_004544.4(NDUFA10):c.771A>G (p.Gln257=) rs13848
NM_004550.4(NDUFS2):c.*114A>G rs1136224
NM_004550.4(NDUFS2):c.-388G>T rs3813623
NM_004550.4(NDUFS2):c.1054C>G (p.Pro352Ala) rs11576415
NM_004550.4(NDUFS2):c.1290C>T (p.Ala430=) rs1136207
NM_004550.4(NDUFS2):c.58C>A (p.Pro20Thr) rs11538340
NM_004553.5(NDUFS6):c.310-15T>C rs10058270
NM_005006.7(NDUFS1):c.*256C>T rs10198830
NM_005006.7(NDUFS1):c.*336G>T rs1044120
NM_005006.7(NDUFS1):c.*457T>A rs4147728
NM_005006.7(NDUFS1):c.*733A>G rs6707707
NM_005006.7(NDUFS1):c.*846del rs58253838
NM_005006.7(NDUFS1):c.-47C>G rs4147707
NM_005006.7(NDUFS1):c.123C>T (p.Val41=) rs2230888
NM_005006.7(NDUFS1):c.1251A>G (p.Arg417=) rs1801318
NM_005006.7(NDUFS1):c.414T>C (p.Asp138=) rs11548670
NM_005006.7(NDUFS1):c.551+14C>A rs10206644
NM_005006.7(NDUFS1):c.966G>T (p.Ala322=) rs1127566
NM_005006.7(NDUFS1):c.975C>T (p.Arg325=) rs2230890
NM_007103.4(NDUFV1):c.-66G>A rs73490568
NM_007103.4(NDUFV1):c.1056T>C (p.Ala352=) rs11227859
NM_007103.4(NDUFV1):c.549C>G (p.Gly183=) rs10896187
NM_014165.4(NDUFAF4):c.*1443G>A rs7758762
NM_014165.4(NDUFAF4):c.*301T>A rs1854268
NM_014165.4(NDUFAF4):c.*323A>T rs9487453
NM_014165.4(NDUFAF4):c.*332A>T rs10499008
NM_014165.4(NDUFAF4):c.241-18dup rs34213186
NM_014165.4(NDUFAF4):c.430T>C (p.Leu144=) rs6684
NM_016013.4(NDUFAF1):c.-386A>T rs111326645
NM_016013.4(NDUFAF1):c.26G>A (p.Arg9His) rs1899
NM_016013.4(NDUFAF1):c.909G>A (p.Val303=) rs73407109
NM_016013.4(NDUFAF1):c.92G>T (p.Arg31Leu) rs3204853
NM_016013.4(NDUFAF1):c.941C>G (p.Ala314Gly) rs12900702
NM_017547.4(FOXRED1):c.*113G>A rs667627
NM_017547.4(FOXRED1):c.*129C>G rs594318
NM_021074.4(NDUFV2):c.*77C>G rs12454908
NM_021074.5(NDUFV2):c.201A>T (p.Val67=) rs41274300
NM_024407.5(NDUFS7):c.*13C>A rs11551663
NM_024407.5(NDUFS7):c.408+10G>T rs2074896
NM_024407.5(NDUFS7):c.68C>T (p.Pro23Leu) rs1142530
NM_025152.3(NUBPL):c.*122G>C rs4981131
NM_025152.3(NUBPL):c.*1451C>T rs28533800
NM_025152.3(NUBPL):c.*1888G>A rs7148746
NM_025152.3(NUBPL):c.*273C>T rs76188062
NM_025152.3(NUBPL):c.*312G>A rs10162516
NM_025152.3(NUBPL):c.*444C>T rs10162515
NM_025152.3(NUBPL):c.*537dup rs200626091
NM_025152.3(NUBPL):c.*836C>G rs10147479
NM_174889.4(NDUFAF2):c.-91C>T rs4647036
NM_175614.4(NDUFA11):c.-217A>G rs1056987
NM_175614.4(NDUFA11):c.-88C>A rs8108064

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