ClinVar Miner

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

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Total variants: 71
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HGVS dbSNP gnomAD frequency
NM_002495.4(NDUFS4):c.198A>C (p.Gly66=) rs31304 0.96579
NM_014165.4(NDUFAF4):c.*382T>A rs1971475 0.90137
NM_014165.4(NDUFAF4):c.420G>A (p.Gln140=) rs11402 0.90128
NM_002495.4(NDUFS4):c.312A>G (p.Arg104=) rs31303 0.79100
NM_021074.5(NDUFV2):c.86T>C (p.Val29Ala) rs906807 0.78836
NM_017547.4(FOXRED1):c.-2T>C rs1786702 0.71634
NM_004544.4(NDUFA10):c.105A>G (p.Lys35=) rs2083411 0.70392
NM_175614.4(NDUFA11):c.-217A>G rs1056987 0.68730
NM_002495.4(NDUFS4):c.12G>C (p.Val4=) rs2279516 0.65985
NM_175614.4(NDUFA11):c.-88C>A rs8108064 0.64945
NM_174889.5(NDUFAF2):c.60G>A (p.Lys20=) rs158921 0.63042
NM_025152.3(NUBPL):c.*995T>C rs10136892 0.59892
NM_004544.4(NDUFA10):c.*3450G>A rs7573892 0.59554
NM_004544.4(NDUFA10):c.*1957G>A rs4854069 0.55325
NM_005006.7(NDUFS1):c.*336G>T rs1044120 0.52989
NM_024407.5(NDUFS7):c.68C>T (p.Pro23Leu) rs1142530 0.52046
NM_014165.4(NDUFAF4):c.430T>C (p.Leu144=) rs6684 0.48379
NM_025152.3(NUBPL):c.*1874A>G rs10348 0.45711
NM_025152.3(NUBPL):c.*1694G>A rs1129623 0.44285
NM_025152.3(NUBPL):c.*1685A>G rs1129622 0.44269
NM_002495.4(NDUFS4):c.*46G>A rs567 0.42121
NM_004544.4(NDUFA10):c.771A>G (p.Gln257=) rs13848 0.38961
NM_002488.4(NDUFA2):c.-136A>G rs778594 0.38702
NM_002488.4(NDUFA2):c.-48A>G rs778593 0.38666
NM_005006.7(NDUFS1):c.1251A>G (p.Arg417=) rs1801318 0.34874
NM_004544.4(NDUFA10):c.*1189C>T rs66534347 0.30437
NM_004544.4(NDUFA10):c.*414G>A rs13424612 0.28510
NM_004544.4(NDUFA10):c.*3204C>T rs34277046 0.28460
NM_014165.4(NDUFAF4):c.*332A>T rs10499008 0.28157
NM_014165.4(NDUFAF4):c.*1443G>A rs7758762 0.23921
NM_014165.4(NDUFAF4):c.*301T>A rs1854268 0.23899
NM_025152.3(NUBPL):c.*312G>A rs10162516 0.22998
NM_016013.4(NDUFAF1):c.26G>A (p.Arg9His) rs1899 0.22292
NM_025152.3(NUBPL):c.*1888G>A rs7148746 0.22286
NM_025152.3(NUBPL):c.*444C>T rs10162515 0.21109
NM_017547.4(FOXRED1):c.*129C>G rs594318 0.19642
NM_017547.4(FOXRED1):c.*113G>A rs667627 0.18697
NM_002496.4(NDUFS8):c.*14C>T rs1051806 0.18509
NM_001377299.1(NDUFS2):c.*114A>G rs1136224 0.13305
NM_025152.3(NUBPL):c.*122G>C rs4981131 0.13131
NM_016013.4(NDUFAF1):c.941C>G (p.Ala314Gly) rs12900702 0.12962
NM_001377299.1(NDUFS2):c.1290C>T (p.Ala430=) rs1136207 0.11971
NM_004550.5(NDUFS2):c.-388G>T rs3813623 0.11879
NM_004544.4(NDUFA10):c.5C>G (p.Ala2Gly) rs11541494 0.11689
NM_004544.4(NDUFA10):c.*308C>T rs8369 0.11658
NM_004544.4(NDUFA10):c.*2309G>A rs1132778 0.11433
NM_021074.5(NDUFV2):c.201A>T (p.Val67=) rs41274300 0.11303
NM_004544.4(NDUFA10):c.*2602C>T rs58261980 0.10946
NM_004553.6(NDUFS6):c.310-15T>C rs10058270 0.10920
NM_025152.3(NUBPL):c.*273C>T rs76188062 0.10021
NM_016013.4(NDUFAF1):c.909G>A (p.Val303=) rs73407109 0.08960
NM_014165.4(NDUFAF4):c.*323A>T rs9487453 0.08584
NM_024407.5(NDUFS7):c.408+10G>T rs2074896 0.05515
NM_004544.4(NDUFA10):c.*631C>T rs10933622 0.05326
NM_007103.4(NDUFV1):c.1056T>C (p.Ala352=) rs11227859 0.05117
NM_007103.4(NDUFV1):c.549C>G (p.Gly183=) rs10896187 0.05020
NM_007103.4(NDUFV1):c.-66G>A rs73490568 0.04056
NM_004544.4(NDUFA10):c.24G>A (p.Leu8=) rs113012830 0.03541
NM_005006.7(NDUFS1):c.*733A>G rs6707707 0.03241
NM_004544.4(NDUFA10):c.*396C>G rs73103629 0.01256
NM_001377299.1(NDUFS2):c.58C>A (p.Pro20Thr) rs11538340
NM_002495.4(NDUFS4):c.424+19dup rs140172554
NM_002496.4(NDUFS8):c.199+15T>G rs3115545
NM_004544.4(NDUFA10):c.*1229C>G rs55998047
NM_004544.4(NDUFA10):c.*438C>T rs13396556
NM_005006.7(NDUFS1):c.*457T>A rs4147728
NM_005006.7(NDUFS1):c.-47C>G rs4147707
NM_005006.7(NDUFS1):c.966G>T (p.Ala322=) rs1127566
NM_016013.4(NDUFAF1):c.92G>T (p.Arg31Leu) rs3204853
NM_024407.5(NDUFS7):c.*13C>A rs11551663
NM_025152.3(NUBPL):c.*836C>G rs10147479

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