Source: CLINVAR

Variant Gene DSI v DPI v Chr Position Consequence Alleles Class AF EXOME AF GENOME Disease Score vda EI vda N. PMIDs First Ref. Last Ref.
dbSNP: rs121434458
rs121434458
COX1 ; COX2 ; ND2 ; TRNA
1.000 0.200 MT 5591 non coding transcript exon variant G/A snv
CUI: C0162671
Disease: MELAS Syndrome
MELAS Syndrome 		0.700 1.000 2 2006 2009
dbSNP: rs121434458
rs121434458
COX1 ; COX2 ; ND2 ; TRNA
1.000 0.200 MT 5591 non coding transcript exon variant G/A snv
CUI: C0162670
Disease: Mitochondrial Myopathies
Mitochondrial Myopathies 		0.700 0
dbSNP: rs786200951
rs786200951
COX1 ; COX2 ; ND2 ; TRNA
MT 5610 non coding transcript exon variant G/A snv
CUI: C0162670
Disease: Mitochondrial Myopathies
Mitochondrial Myopathies 		0.700 1.000 1 2015 2015
dbSNP: rs786200950
rs786200950
COX1 ; COX2 ; ND2 ; TRNA
MT 5631 non coding transcript exon variant G/A snv
CUI: C0162670
Disease: Mitochondrial Myopathies
Mitochondrial Myopathies 		0.700 1.000 1 2015 2015
dbSNP: rs121434457
rs121434457
COX1 ; COX2 ; ND2 ; TRNA
1.000 MT 5650 non coding transcript exon variant G/A snv
CUI: C4016604
Disease: MYOTONIC DYSTROPHY-LIKE MYOPATHY
MYOTONIC DYSTROPHY-LIKE MYOPATHY 		0.700 0
dbSNP: rs1569484022
rs1569484022
COX1 ; COX2 ; ND2 ; TRNN
1.000 0.120 MT 5667 non coding transcript exon variant G/A snv
CUI: C0162292
Disease: External Ophthalmoplegia
External Ophthalmoplegia 		0.700 0
dbSNP: rs199476131
rs199476131
COX1 ; COX2 ; ND2 ; TRNN
1.000 MT 5692 non coding transcript exon variant T/C snv
CUI: C4016605
Disease: OPHTHALMOPLEGIA, ISOLATED
OPHTHALMOPLEGIA, ISOLATED 		0.700 0
dbSNP: rs199476130
rs199476130
COX1 ; COX2 ; ND2 ; TRNN
1.000 MT 5703 non coding transcript exon variant G/A snv
CUI: C4016605
Disease: OPHTHALMOPLEGIA, ISOLATED
OPHTHALMOPLEGIA, ISOLATED 		0.700 0
dbSNP: rs199476132
rs199476132
COX1 ; COX2 ; ND2 ; TRNN
0.925 0.200 MT 5728 non coding transcript exon variant T/C snv
CUI: C0268237
Disease: Cytochrome-c Oxidase Deficiency
Cytochrome-c Oxidase Deficiency 		0.700 0
dbSNP: rs199476132
rs199476132
COX1 ; COX2 ; ND2 ; TRNN
0.925 0.200 MT 5728 non coding transcript exon variant T/C snv
CUI: C0162671
Disease: MELAS Syndrome
MELAS Syndrome 		0.700 0
dbSNP: rs199476132
rs199476132
COX1 ; COX2 ; ND2 ; TRNN
0.925 0.200 MT 5728 non coding transcript exon variant T/C snv
CUI: C4722142
Disease: MITOCHONDRIAL COMPLEX I DEFICIENCY, MITOCHONDRIAL TYPE 2 (finding)
MITOCHONDRIAL COMPLEX I DEFICIENCY, MITOCHONDRIAL TYPE 2 (finding) 		0.700 0
dbSNP: rs200077222
rs200077222
TRNC ; COX1 ; COX2 ; ND2
1.000 0.200 MT 5814 non coding transcript exon variant T/C snv
CUI: C0162671
Disease: MELAS Syndrome
MELAS Syndrome 		0.700 0
dbSNP: rs387906732
rs387906732
TRNC ; COX1 ; COX2 ; ND2
1.000 MT 5816 non coding transcript exon variant A/G snv
CUI: C4016607
Disease: DYSTONIA, MITOCHONDRIAL
DYSTONIA, MITOCHONDRIAL 		0.700 0
dbSNP: rs118203891
rs118203891
COX1 ; COX2 ; ND2 ; TRNY
1.000 MT 5874 non coding transcript exon variant T/C snv
CUI: C4016631
Disease: EXERCISE INTOLERANCE AND COMPLEX III DEFICIENCY, SOMATIC
EXERCISE INTOLERANCE AND COMPLEX III DEFICIENCY, SOMATIC 		0.700 0
dbSNP: rs118203893
rs118203893
COX1 ; COX2 ; ND2 ; TRNY
1.000 0.240 MT 5877 non coding transcript exon variant C/T snv
CUI: C0022541
Disease: Kearns-Sayre syndrome
Kearns-Sayre syndrome 		0.700 0
dbSNP: rs118203892
rs118203892
COX1 ; COX2 ; ND2 ; TRNY
1.000 0.240 MT 5885 non coding transcript exon variant T/- delins
CUI: C0022541
Disease: Kearns-Sayre syndrome
Kearns-Sayre syndrome 		0.700 0
dbSNP: rs199476129
rs199476129
COX1 ; COX2 ; ND2
MT 5920 stop gained G/A snv
CUI: C1838877
Disease: Myoglobinuria, Recurrent
Myoglobinuria, Recurrent 		0.700 0
dbSNP: rs1569484042
rs1569484042
COX1 ; COX2 ; ND2
1.000 0.080 MT 5954 frameshift variant A/- del
CUI: C0039685
Disease: Tetralogy of Fallot
Tetralogy of Fallot 		0.700 0
dbSNP: rs281865417
rs281865417
COX1 ; COX2
1.000 0.080 MT 6277 missense variant G/A snv
CUI: C0009402
Disease: Colorectal Carcinoma
Colorectal Carcinoma 		0.800 1.000 0 2006 2009
dbSNP: rs267606883
rs267606883
COX1 ; COX2
0.925 0.080 MT 6328 missense variant C/T snv
CUI: C4016602
Disease: CYTOCHROME c OXIDASE I DEFICIENCY
CYTOCHROME c OXIDASE I DEFICIENCY 		0.700 0
dbSNP: rs1569484091
rs1569484091
ATP6 ; ATP8 ; COX1 ; COX2
MT 6608 frameshift variant C/- del
CUI: C4531094
Disease: Abnormal mitral valve physiology
Abnormal mitral valve physiology 		0.700 0
dbSNP: rs1569484096
rs1569484096
ATP6 ; ATP8 ; COX1 ; COX2
MT 6673 frameshift variant T/- delins
CUI: C4531094
Disease: Abnormal mitral valve physiology
Abnormal mitral valve physiology 		0.700 0
dbSNP: rs1569484098
rs1569484098
ATP6 ; ATP8 ; COX1 ; COX2
MT 6687 inframe insertion -/ACC delins
CUI: C4531094
Disease: Abnormal mitral valve physiology
Abnormal mitral valve physiology 		0.700 0
dbSNP: rs1569484100
rs1569484100
ATP6 ; ATP8 ; COX1 ; COX2
MT 6692 frameshift variant A/- delins
CUI: C4531094
Disease: Abnormal mitral valve physiology
Abnormal mitral valve physiology 		0.700 0
dbSNP: rs1569484104
rs1569484104
ATP6 ; ATP8 ; COX1 ; COX2
1.000 MT 6716 inframe insertion -/GGG delins
CUI: C4703464
Disease: Abnormal aortic valve physiology
Abnormal aortic valve physiology 		0.700 0