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: rs1131692061
rs1131692061
ND4 ; ND5 ; TRNL2
MT 12271 non coding transcript exon variant T/C snv
CUI: C0751651
Disease: Mitochondrial Diseases
Mitochondrial Diseases 		0.700 0
dbSNP: rs1131692062
rs1131692062
ND4 ; ND5 ; TRNL2
MT 12283 non coding transcript exon variant G/A snv
CUI: C0751651
Disease: Mitochondrial Diseases
Mitochondrial Diseases 		0.700 0
dbSNP: rs118203889
rs118203889
ND4 ; ND5 ; TRNS2
1.000 MT 12207 non coding transcript exon variant G/A snv
CUI: C3151970
Disease: MERRF/MELAS OVERLAP SYNDROME
MERRF/MELAS OVERLAP SYNDROME 		0.700 0
dbSNP: rs121434463
rs121434463
ND4 ; ND5 ; TRNL2
MT 12320 non coding transcript exon variant A/G snv
CUI: C0162670
Disease: Mitochondrial Myopathies
Mitochondrial Myopathies 		0.700 0
dbSNP: rs121434473
rs121434473
ND4 ; ND5 ; TRNH
1.000 MT 12183 non coding transcript exon variant G/A snv
CUI: C4016611
Disease: PIGMENTARY RETINOPATHY AND SENSORINEURAL DEAFNESS
PIGMENTARY RETINOPATHY AND SENSORINEURAL DEAFNESS 		0.700 0
dbSNP: rs121434476
rs121434476
COX3 ; ND3 ; ND4 ; ND4L ; TRNG
MT 10010 non coding transcript exon variant T/C snv
CUI: C0424551
Disease: Impaired exercise tolerance
Impaired exercise tolerance 		0.700 0
dbSNP: rs1569484292
rs1569484292
ATP6 ; COX3 ; ND3 ; ND4 ; ND4L
1.000 MT 9311 inframe insertion -/GCA ins
CUI: C4703464
Disease: Abnormal aortic valve physiology
Abnormal aortic valve physiology 		0.700 0
dbSNP: rs1569484300
rs1569484300
ATP6 ; COX3 ; ND3 ; ND4 ; ND4L
1.000 MT 9431 frameshift variant -/A ins
CUI: C4703464
Disease: Abnormal aortic valve physiology
Abnormal aortic valve physiology 		0.700 0
dbSNP: rs199476137
rs199476137
ATP6 ; COX3 ; ND3 ; ND4 ; ND4L
1.000 MT 9204 frameshift variant TA/- delins
CUI: C4016603
Disease: SEIZURES AND LACTIC ACIDOSIS
SEIZURES AND LACTIC ACIDOSIS 		0.700 0
dbSNP: rs2853493
rs2853493
ND4 ; ND5
MT 11467 synonymous variant A/G snv
CUI: C0751651
Disease: Mitochondrial Diseases
Mitochondrial Diseases 		0.700 0
dbSNP: rs2853499
rs2853499
ND4 ; ND5
MT 12372 synonymous variant G/A snv
CUI: C0751651
Disease: Mitochondrial Diseases
Mitochondrial Diseases 		0.700 0
dbSNP: rs267606615
rs267606615
ATP6 ; COX3 ; ND3 ; ND4 ; ND4L
0.925 0.080 MT 9379 stop gained G/A snv
CUI: C3151898
Disease: MITOCHONDRIAL MYOPATHY, INFANTILE, TRANSIENT
MITOCHONDRIAL MYOPATHY, INFANTILE, TRANSIENT 		0.700 1.000 1 2002 2002
dbSNP: rs121434475
rs121434475
COX3 ; ND3 ; ND4 ; ND4L ; TRNG
1.000 0.080 MT 9997 non coding transcript exon variant T/C snv
CUI: C0949658
Disease: Cardiomyopathy, Hypertrophic, Familial
Cardiomyopathy, Hypertrophic, Familial 		0.700 0
dbSNP: rs1569484288
rs1569484288
ATP6 ; COX3 ; ND3 ; ND4 ; ND4L
1.000 0.080 MT 9273 protein altering variant -/ATC ins
CUI: C0039685
Disease: Tetralogy of Fallot
Tetralogy of Fallot 		0.700 0
dbSNP: rs1569484299
rs1569484299
ATP6 ; COX3 ; ND3 ; ND4 ; ND4L
1.000 0.080 MT 9429 protein altering variant -/CCC ins
CUI: C0039685
Disease: Tetralogy of Fallot
Tetralogy of Fallot 		0.700 0
dbSNP: rs1569484301
rs1569484301
ATP6 ; COX3 ; ND3 ; ND4 ; ND4L
1.000 0.080 MT 9441 inframe insertion -/TTT delins
CUI: C0039685
Disease: Tetralogy of Fallot
Tetralogy of Fallot 		0.700 0
dbSNP: rs267606612
rs267606612
ATP6 ; COX3 ; ND3 ; ND4 ; ND4L
1.000 0.080 MT 9480 inframe deletion TCGCAGGATTTTTCT/- delins
CUI: C4017626
Disease: MITOCHONDRIAL COMPLEX IV DEFICIENCY WITH RECURRENT MYOGLOBINURIA
MITOCHONDRIAL COMPLEX IV DEFICIENCY WITH RECURRENT MYOGLOBINURIA 		0.700 0
dbSNP: rs267606612
rs267606612
ATP6 ; COX3 ; ND3 ; ND4 ; ND4L
1.000 0.080 MT 9480 inframe deletion TCGCAGGATTTTTCT/- delins
CUI: C0268237
Disease: Cytochrome-c Oxidase Deficiency
Cytochrome-c Oxidase Deficiency 		0.700 0
dbSNP: rs267606613
rs267606613
COX3 ; ND3 ; ND4 ; ND4L
1.000 0.080 MT 9952 stop gained G/A snv
CUI: C0268237
Disease: Cytochrome-c Oxidase Deficiency
Cytochrome-c Oxidase Deficiency 		0.700 0
dbSNP: rs267606615
rs267606615
ATP6 ; COX3 ; ND3 ; ND4 ; ND4L
0.925 0.080 MT 9379 stop gained G/A snv
CUI: C0268237
Disease: Cytochrome-c Oxidase Deficiency
Cytochrome-c Oxidase Deficiency 		0.700 0
dbSNP: rs267606892
rs267606892
ND3 ; ND4 ; ND4L ; ND5
1.000 0.080 MT 10563 missense variant T/C snv
CUI: C0009402
Disease: Colorectal Carcinoma
Colorectal Carcinoma 		0.800 0
dbSNP: rs199476135
rs199476135
ATP6 ; COX3 ; ND3 ; ND4 ; ND4L
0.882 0.120 MT 9176 missense variant T/C;G snv
CUI: C0023264
Disease: Leigh Disease
Leigh Disease 		0.800 1.000 7 1993 2007
dbSNP: rs267606890
rs267606890
COX3 ; ND3 ; ND4 ; ND4L
0.925 0.120 MT 10191 missense variant T/C snv
CUI: C0023264
Disease: Leigh Disease
Leigh Disease 		0.710 1.000 6 2001 2019
dbSNP: rs199476117
rs199476117
COX3 ; ND3 ; ND4 ; ND4L
0.925 0.120 MT 10158 missense variant T/C snv
CUI: C0023264
Disease: Leigh Disease
Leigh Disease 		0.700 1.000 4 2003 2005
dbSNP: rs199476136
rs199476136
ATP6 ; ATP8 ; COX3 ; ND3 ; ND4 ; ND4L
0.925 0.120 MT 8851 missense variant T/C snv
CUI: C0023264
Disease: Leigh Disease
Leigh Disease 		0.700 1.000 4 1995 2013