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: 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: rs1569484234
rs1569484234
ATP6 ; ATP8 ; COX2 ; COX3 ; ND3 ; ND4L
1.000 0.040 MT 8750 protein altering variant -/AAA delins
CUI: C0149630
Disease: Bicuspid aortic valve
Bicuspid aortic valve 		0.700 0
dbSNP: rs1569484208
rs1569484208
ATP6 ; ATP8 ; COX2 ; COX3 ; ND3
1.000 0.040 MT 8418 protein altering variant -/ATA delins
CUI: C0149630
Disease: Bicuspid aortic valve
Bicuspid aortic valve 		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: rs267606614
rs267606614
ATP6 ; COX3 ; ND3 ; ND4 ; ND4L
0.925 0.120 MT 9531 frameshift variant -/C delins
CUI: C0023264
Disease: Leigh Disease
Leigh Disease 		0.700 1.000 1 2000 2000
dbSNP: rs267606614
rs267606614
ATP6 ; COX3 ; ND3 ; ND4 ; ND4L
0.925 0.120 MT 9531 frameshift variant -/C delins
CUI: C0268237
Disease: Cytochrome-c Oxidase Deficiency
Cytochrome-c Oxidase Deficiency 		0.700 0
dbSNP: rs1569484166
rs1569484166
ATP6 ; ATP8 ; COX1 ; COX2 ; COX3
1.000 MT 7668 inframe insertion -/CAC delins
CUI: C4703464
Disease: Abnormal aortic valve physiology
Abnormal aortic 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: rs1569484165
rs1569484165
ATP6 ; ATP8 ; COX1 ; COX2 ; COX3
1.000 MT 7661 protein altering variant -/CCA ins
CUI: C4703464
Disease: Abnormal aortic valve physiology
Abnormal aortic valve physiology 		0.700 0
dbSNP: rs1569484209
rs1569484209
ATP6 ; ATP8 ; COX2 ; COX3 ; ND3
1.000 MT 8431 inframe insertion -/CCA ins
CUI: C4703464
Disease: Abnormal aortic valve physiology
Abnormal aortic 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: 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: 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: 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: rs387906423
rs387906423
ATP6 ; ATP8 ; COX2 ; COX3 ; ND3 ; ND4L
1.000 0.200 MT 8617 frameshift variant -/T delins
CUI: C1328349
Disease: Neuropathy ataxia and retinis pigmentosa
Neuropathy ataxia and retinis pigmentosa 		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: 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: rs1569484164
rs1569484164
ATP6 ; ATP8 ; COX1 ; COX2 ; COX3
1.000 0.080 MT 7638 frameshift variant A/- delins
CUI: C0039685
Disease: Tetralogy of Fallot
Tetralogy of Fallot 		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: rs199474818
rs199474818
ATP6 ; ATP8 ; COX1 ; COX2 ; COX3
0.882 0.320 MT 7445 stop lost A/C;G;T snv
CUI: C0162671
Disease: MELAS Syndrome
MELAS Syndrome 		0.700 1.000 1 1994 1994
dbSNP: rs199474818
rs199474818
ATP6 ; ATP8 ; COX1 ; COX2 ; COX3
0.882 0.320 MT 7445 stop lost A/C;G;T snv
CUI: C1835672
Disease: Palmoplantar Keratoderma with Deafness
Palmoplantar Keratoderma with Deafness 		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: 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: 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: 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