ClinVar Miner

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

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Total variants: 46
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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

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