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: 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
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: rs1569484114
rs1569484114
ATP6 ; ATP8 ; COX1 ; COX2
1.000 MT 6809 inframe insertion -/AAG ins
CUI: C4703464
Disease: Abnormal aortic valve physiology
Abnormal aortic valve physiology 		0.700 0
dbSNP: rs1569484115
rs1569484115
ATP6 ; ATP8 ; COX1 ; COX2
1.000 MT 6815 frameshift variant T/- delins
CUI: C4703464
Disease: Abnormal aortic valve physiology
Abnormal aortic valve physiology 		0.700 0
dbSNP: rs1569484116
rs1569484116
ATP6 ; ATP8 ; COX1 ; COX2
1.000 MT 6858 frameshift variant A/- delins
CUI: C4703464
Disease: Abnormal aortic valve physiology
Abnormal aortic valve physiology 		0.700 0
dbSNP: rs1569484120
rs1569484120
ATP6 ; ATP8 ; COX1 ; COX2
1.000 0.080 MT 6887 inframe insertion -/GGG delins
CUI: C0039685
Disease: Tetralogy of Fallot
Tetralogy of Fallot 		0.700 0
dbSNP: rs1569484122
rs1569484122
ATP6 ; ATP8 ; COX1 ; COX2
1.000 0.080 MT 6900 frameshift variant A/- delins
CUI: C0039685
Disease: Tetralogy of Fallot
Tetralogy of Fallot 		0.700 0
dbSNP: rs1569484123
rs1569484123
ATP6 ; ATP8 ; COX1 ; COX2
1.000 MT 6905 inframe insertion -/CTC delins
CUI: C4703464
Disease: Abnormal aortic valve physiology
Abnormal aortic valve physiology 		0.700 0
dbSNP: rs1569484124
rs1569484124
ATP6 ; ATP8 ; COX1 ; COX2
0.925 0.080 MT 6925 frameshift variant C/- delins
CUI: C0039685
Disease: Tetralogy of Fallot
Tetralogy of Fallot 		0.700 0
dbSNP: rs1569484124
rs1569484124
ATP6 ; ATP8 ; COX1 ; COX2
0.925 0.080 MT 6925 frameshift variant C/- delins
CUI: C4703464
Disease: Abnormal aortic valve physiology
Abnormal aortic valve physiology 		0.700 0
dbSNP: rs1569484125
rs1569484125
ATP6 ; ATP8 ; COX1 ; COX2
1.000 MT 6936 frameshift variant A/- del
CUI: C4703464
Disease: Abnormal aortic valve physiology
Abnormal aortic valve physiology 		0.700 0
dbSNP: rs1569484126
rs1569484126
ATP6 ; ATP8 ; COX1 ; COX2
1.000 0.080 MT 6939 frameshift variant T/- delins
CUI: C0039685
Disease: Tetralogy of Fallot
Tetralogy of Fallot 		0.700 0
dbSNP: rs199476126
rs199476126
ATP6 ; ATP8 ; COX1 ; COX2
1.000 MT 6742 missense variant T/C snv
CUI: C4016601
Disease: SIDEROBLASTIC ANEMIA, ACQUIRED IDIOPATHIC
SIDEROBLASTIC ANEMIA, ACQUIRED IDIOPATHIC 		0.700 0
dbSNP: rs199476127
rs199476127
ATP6 ; ATP8 ; COX1 ; COX2
1.000 MT 6721 missense variant T/C snv
CUI: C4016601
Disease: SIDEROBLASTIC ANEMIA, ACQUIRED IDIOPATHIC
SIDEROBLASTIC ANEMIA, ACQUIRED IDIOPATHIC 		0.700 0
dbSNP: rs28679680
rs28679680
ATP6 ; ATP8 ; COX1 ; COX2
1.000 0.080 MT 6930 stop gained G/A snv
CUI: C0268237
Disease: Cytochrome-c Oxidase Deficiency
Cytochrome-c Oxidase Deficiency 		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: 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: 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: 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