ClinVar Miner

List of variants studied for mitochondrial complex deficiency by Laboratory of Inherited Metabolic Diseases, Research centre for medical genetics

Included ClinVar conditions (92):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 28
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HGVS dbSNP gnomAD frequency
NM_001303.4(COX10):c.1061G>A (p.Arg354Gln) rs745492359 0.00005
NM_003172.4(SURF1):c.491C>T (p.Thr164Ile) rs782214884 0.00001
NM_001303.4(COX10):c.1037C>T (p.Ser346Leu)
NM_001303.4(COX10):c.878C>T (p.Ala293Val)
NM_001377299.1(NDUFS2):c.245T>A (p.Leu82Gln)
NM_001377299.1(NDUFS2):c.412C>T (p.Arg138Trp) rs1665634865
NM_002496.4(NDUFS8):c.307C>T (p.Arg103Trp)
NM_002496.4(NDUFS8):c.585G>A (p.Trp195Ter) rs2134419114
NM_003172.4(SURF1):c.187C>T (p.Gln63Ter)
NM_003172.4(SURF1):c.227T>A (p.Leu76Ter)
NM_003172.4(SURF1):c.49G>T (p.Gly17Ter)
NM_003172.4(SURF1):c.515+2T>C
NM_003172.4(SURF1):c.516-1G>A
NM_003172.4(SURF1):c.554dup (p.Lys186fs)
NM_003172.4(SURF1):c.584G>A (p.Gly195Asp)
NM_003172.4(SURF1):c.584G>T (p.Gly195Val)
NM_003172.4(SURF1):c.65del (p.Ser22fs)
NM_003172.4(SURF1):c.703A>G (p.Met235Val) rs782437393
NM_003172.4(SURF1):c.779G>A (p.Gly260Glu)
NM_003172.4(SURF1):c.833+1del
NM_003172.4(SURF1):c.856T>C (p.Ser286Pro)
NM_003172.4(SURF1):c.899_902del (p.Val300fs)
NM_004544.4(NDUFA10):c.557A>C (p.His186Pro)
NM_004544.4(NDUFA10):c.604dup (p.His202fs) rs746019378
NM_007103.4(NDUFV1):c.475C>T (p.Arg159Ter)
NM_024120.5(NDUFAF5):c.743A>C (p.Tyr248Ser)
NM_152416.4(NDUFAF6):c.634G>A (p.Gly212Ser)
NM_152416.4(NDUFAF6):c.907C>T (p.Arg303Ter)

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