ClinVar Miner

List of variants reported as likely benign for Mitochondrial complex I deficiency

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Total variants: 34
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HGVS dbSNP gnomAD frequency
NM_002496.4(NDUFS8):c.*14C>T rs1051806 0.18509
NM_004544.4(NDUFA10):c.*1923_*1924insA rs138899326 0.11754
NM_021074.4(NDUFV2):c.*77C>G rs12454908 0.11308
NM_025152.3(NUBPL):c.*537dup rs200626091 0.09955
NM_000156.6(GAMT):c.*276C>T rs266810 0.07427
NM_000156.6(GAMT):c.*146A>C rs659455 0.07418
NM_000156.6(GAMT):c.*151T>C rs659460 0.07383
NM_000156.6(GAMT):c.626C>T (p.Thr209Met) rs17851582 0.07010
NM_000156.6(GAMT):c.*311C>G rs266811 0.06572
NM_000156.6(GAMT):c.571-6G>A rs2074899 0.03927
NM_025152.3(NUBPL):c.593A>C (p.Asn198Thr) rs11558436 0.00480
NM_024120.5(NDUFAF5):c.183G>C (p.Arg61=) rs139219896 0.00468
NM_024120.5(NDUFAF5):c.449A>G (p.Asn150Ser) rs148341631 0.00406
NM_005006.7(NDUFS1):c.1291C>G (p.Leu431Val) rs78042826 0.00353
NM_004553.6(NDUFS6):c.96C>A (p.Val32=) rs140619622 0.00311
NM_024120.5(NDUFAF5):c.9G>A (p.Arg3=) rs201860210 0.00011
NM_004553.6(NDUFS6):c.9G>A (p.Ala3=) rs765884582 0.00006
NM_024120.5(NDUFAF5):c.222+8C>G rs113659919 0.00006
NM_004553.6(NDUFS6):c.117C>G (p.Val39=) rs556405335 0.00005
NM_024120.5(NDUFAF5):c.189C>G (p.Pro63=) rs143178200 0.00005
NM_024120.5(NDUFAF5):c.130C>T (p.Leu44=) rs768309175 0.00004
NM_024120.5(NDUFAF5):c.412G>A (p.Val138Ile) rs572478240 0.00004
NM_004553.6(NDUFS6):c.102G>A (p.Pro34=) rs763463147 0.00003
NM_024120.5(NDUFAF5):c.750A>G (p.Gly250=) rs767277509 0.00003
NM_004553.6(NDUFS6):c.165G>T (p.Arg55=) rs147278612 0.00002
NM_024120.5(NDUFAF5):c.263+8G>A rs200867652 0.00001
NM_024120.5(NDUFAF5):c.672C>T (p.Asp224=) rs1199767012 0.00001
NM_002495.4(NDUFS4):c.424+19dup rs140172554
NM_004544.4(NDUFA10):c.1000-5del rs138479490
NM_004553.6(NDUFS6):c.67C>T (p.Leu23=) rs1014264454
NM_005006.7(NDUFS1):c.*846del rs58253838
NM_014165.4(NDUFAF4):c.241-18dup rs34213186
NM_024407.5(NDUFS7):c.*13C>A rs11551663
NM_174889.4(NDUFAF2):c.-91C>T rs4647036

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