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: 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: 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: rs1131692064
rs1131692064
ATP6 ; ATP8 ; COX2 ; COX3
MT 7989 missense variant T/C snv
CUI: C0751651
Disease: Mitochondrial Diseases
Mitochondrial Diseases 		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: rs1569484107
rs1569484107
ATP6 ; ATP8 ; COX1 ; COX2
MT 6743 inframe insertion -/TGG ins
CUI: C4531094
Disease: Abnormal mitral valve physiology
Abnormal mitral valve physiology 		0.700 0
dbSNP: rs1569484108
rs1569484108
ATP6 ; ATP8 ; COX1 ; COX2
MT 6749 frameshift variant C/- delins
CUI: C4531094
Disease: Abnormal mitral valve physiology
Abnormal mitral valve physiology 		0.700 0
dbSNP: rs1569484169
rs1569484169
ATP6 ; ATP8 ; COX1 ; COX2 ; COX3
MT 7680 protein altering variant -/GTC ins
CUI: C4531094
Disease: Abnormal mitral valve physiology
Abnormal mitral valve physiology 		0.700 0
dbSNP: rs1569484177
rs1569484177
ATP6 ; ATP8 ; COX1 ; COX2 ; COX3
MT 7789 inframe insertion -/TCC delins
CUI: C4531094
Disease: Abnormal mitral valve physiology
Abnormal mitral valve physiology 		0.700 0
dbSNP: rs1569484178
rs1569484178
ATP6 ; ATP8 ; COX1 ; COX2 ; COX3
MT 7814 protein altering variant -/CCC delins
CUI: C4531094
Disease: Abnormal mitral valve physiology
Abnormal mitral valve physiology 		0.700 0
dbSNP: rs1569484221
rs1569484221
ATP6 ; ATP8 ; COX2 ; COX3 ; ND3 ; ND4L
MT 8560 inframe insertion -/CAC delins
CUI: C4531094
Disease: Abnormal mitral valve physiology
Abnormal mitral valve physiology 		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: rs118192098
rs118192098
ATP6 ; ATP8 ; COX2 ; COX3 ; ND3 ; TRNK
0.851 0.200 MT 8344 non coding transcript exon variant A/G snv
CUI: C0162672
Disease: MERRF Syndrome
MERRF Syndrome 		0.700 1.000 8 2003 2009
dbSNP: rs111033319
rs111033319
ATP6 ; ATP8 ; COX1 ; COX2 ; COX3 ; TRNS1
0.851 0.280 MT 7466 non coding transcript exon variant C/-;CC delins
CUI: C3151897
Disease: DEAFNESS, NONSYNDROMIC SENSORINEURAL, MITOCHONDRIAL
DEAFNESS, NONSYNDROMIC SENSORINEURAL, MITOCHONDRIAL 		0.700 1.000 2 1999 2005
dbSNP: rs118192098
rs118192098
ATP6 ; ATP8 ; COX2 ; COX3 ; ND3 ; TRNK
0.851 0.200 MT 8344 non coding transcript exon variant A/G snv
CUI: C0023264
Disease: Leigh Disease
Leigh Disease 		0.700 1.000 2 1991 1993
dbSNP: rs111033319
rs111033319
ATP6 ; ATP8 ; COX1 ; COX2 ; COX3 ; TRNS1
0.851 0.280 MT 7466 non coding transcript exon variant C/-;CC delins
CUI: C0162671
Disease: MELAS Syndrome
MELAS Syndrome 		0.700 1.000 1 1995 1995
dbSNP: rs118192098
rs118192098
ATP6 ; ATP8 ; COX2 ; COX3 ; ND3 ; TRNK
0.851 0.200 MT 8344 non coding transcript exon variant A/G snv
CUI: C0162671
Disease: MELAS Syndrome
MELAS Syndrome 		0.700 1.000 1 1991 1991
dbSNP: rs111033319
rs111033319
ATP6 ; ATP8 ; COX1 ; COX2 ; COX3 ; TRNS1
0.851 0.280 MT 7466 non coding transcript exon variant C/-;CC delins
CUI: C3151975
Disease: DEAFNESS, SENSORINEURAL, WITH NEUROLOGIC FEATURES
DEAFNESS, SENSORINEURAL, WITH NEUROLOGIC FEATURES 		0.700 0
dbSNP: rs111033319
rs111033319
ATP6 ; ATP8 ; COX1 ; COX2 ; COX3 ; TRNS1
0.851 0.280 MT 7466 non coding transcript exon variant C/-;CC delins
CUI: C4016626
Disease: MITOCHONDRIAL CYTOCHROME c OXIDASE DEFICIENCY
MITOCHONDRIAL CYTOCHROME c OXIDASE DEFICIENCY 		0.700 0
dbSNP: rs118192098
rs118192098
ATP6 ; ATP8 ; COX2 ; COX3 ; ND3 ; TRNK
0.851 0.200 MT 8344 non coding transcript exon variant A/G snv
CUI: C0751651
Disease: Mitochondrial Diseases
Mitochondrial Diseases 		0.700 0
dbSNP: rs118192098
rs118192098
ATP6 ; ATP8 ; COX2 ; COX3 ; ND3 ; TRNK
0.851 0.200 MT 8344 non coding transcript exon variant A/G snv
CUI: C1838867
Disease: PARKINSON DISEASE, MITOCHONDRIAL (disorder)
PARKINSON DISEASE, MITOCHONDRIAL (disorder) 		0.700 0
dbSNP: rs199474818
rs199474818
ATP6 ; ATP8 ; COX1 ; COX2 ; COX3
0.882 0.320 MT 7445 stop lost A/C;G;T snv
CUI: C3151897
Disease: DEAFNESS, NONSYNDROMIC SENSORINEURAL, MITOCHONDRIAL
DEAFNESS, NONSYNDROMIC SENSORINEURAL, MITOCHONDRIAL 		0.700 1.000 4 1994 2008
dbSNP: rs118192099
rs118192099
ATP6 ; ATP8 ; COX2 ; COX3 ; ND3 ; TRNK
0.882 0.200 MT 8356 non coding transcript exon variant T/C snv
CUI: C0162671
Disease: MELAS Syndrome
MELAS Syndrome 		0.700 1.000 1 1992 1992