ClinVar Miner

List of variants reported as likely benign for Mitochondrial complex I deficiency, nuclear type 1

Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 46
Download table as spreadsheet
HGVS dbSNP gnomAD frequency
NM_001377299.1(NDUFS2):c.1054C>G (p.Pro352Ala) rs11576415 0.06461
NM_005006.7(NDUFS1):c.414T>C (p.Asp138=) rs11548670 0.05713
NM_014165.4(NDUFAF4):c.*350A>C rs41288598 0.04940
NM_004544.4(NDUFA10):c.*3075T>G rs7588974 0.03737
NM_025152.3(NUBPL):c.*1451C>T rs28533800 0.03631
NM_014165.4(NDUFAF4):c.*387C>T rs41288596 0.03489
NM_016013.4(NDUFAF1):c.-379C>T rs146883891 0.03244
NM_014165.4(NDUFAF4):c.*639A>C rs11759571 0.03170
NM_005006.7(NDUFS1):c.*256C>T rs10198830 0.02838
NM_005006.7(NDUFS1):c.551+14C>A rs10206644 0.02838
NM_005006.7(NDUFS1):c.975C>T (p.Arg325=) rs2230890 0.02835
NM_016013.4(NDUFAF1):c.-386A>T rs111326645 0.02811
NM_016013.4(NDUFAF1):c.526G>A (p.Glu176Lys) rs35227875 0.02686
NM_005006.7(NDUFS1):c.*158T>C rs3770989 0.02543
NM_005006.7(NDUFS1):c.123C>T (p.Val41=) rs2230888 0.02420
NM_002496.4(NDUFS8):c.*40A>G rs61329983 0.02403
NM_004544.4(NDUFA10):c.*3349G>A rs77216981 0.02367
NM_014165.4(NDUFAF4):c.*1062T>G rs76370016 0.02302
NM_021074.5(NDUFV2):c.580-12T>A rs114558512 0.01953
NM_017547.4(FOXRED1):c.*190T>C rs77902129 0.01849
NM_174889.5(NDUFAF2):c.462T>C (p.Phe154=) rs77878573 0.01828
NM_016013.4(NDUFAF1):c.558A>G (p.Ile186Met) rs34979001 0.01822
NM_001377299.1(NDUFS2):c.986+12A>G rs11265565 0.01793
NM_005006.7(NDUFS1):c.*399G>A rs77000728 0.01727
NM_175614.4(NDUFA11):c.-234T>C rs115530541 0.01556
NM_002496.4(NDUFS8):c.-45A>C rs4147776 0.01538
NM_004544.4(NDUFA10):c.*2511C>T rs74540213 0.01512
NM_014165.4(NDUFAF4):c.*1299G>A rs73758053 0.01451
NM_025152.3(NUBPL):c.*26C>G rs76130953 0.01425
NM_014165.4(NDUFAF4):c.*1214G>A rs17057099 0.01241
NM_004544.4(NDUFA10):c.*1217A>G rs116403651 0.01210
NM_004544.4(NDUFA10):c.*1878C>T rs80067639 0.01081
NM_004544.4(NDUFA10):c.*3544C>T rs114944621 0.01013
NM_005006.7(NDUFS1):c.*574T>G rs73065790 0.01005
NM_004544.4(NDUFA10):c.194A>G (p.Asn65Ser) rs35715497 0.00925
NM_004544.4(NDUFA10):c.*407C>T rs74614612 0.00847
NM_174889.5(NDUFAF2):c.300A>T (p.Ile100=) rs191388646 0.00585
NM_004544.4(NDUFA10):c.712G>A (p.Glu238Lys) rs35462421 0.00570
NM_004544.4(NDUFA10):c.*1382C>T rs111337344 0.00263
NM_007103.4(NDUFV1):c.*79C>T rs76839099 0.00124
NM_004544.4(NDUFA10):c.*2202C>T rs77614498 0.00120
NM_004544.4(NDUFA10):c.*2495C>T rs78395168 0.00119
NM_014165.4(NDUFAF4):c.111C>T (p.Asn37=) rs139675421 0.00064
NM_005006.7(NDUFS1):c.1393-7T>A rs200409285 0.00018
NM_005006.7(NDUFS1):c.*53T>G rs116335919
NM_017547.4(FOXRED1):c.*93G>A rs114082966

The information on this website is not intended for direct diagnostic use or medical decision-making without review by a genetics professional. Individuals should not change their health behavior solely on the basis of information contained on this website. Neither the University of Utah nor the National Institutes of Health independently verfies the submitted information. If you have questions about the information contained on this website, please see a health care professional.