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: rs1064792875
rs1064792875
1.000 22 50525908 stop gained C/T snv
Mitochondrial DNA Depletion Syndrome 1
0.700 0
dbSNP: rs121908508
rs121908508
1.000 0.200 22 50524305 stop gained C/A;T snv
Cardioencephalomyopathy, Fatal Infantile, due to Cytochrome C Oxidase Deficiency
0.700 0
dbSNP: rs1471478620
rs1471478620
1.000 22 50525910 frameshift variant -/G delins
Mitochondrial DNA Depletion Syndrome 1
0.700 0
dbSNP: rs1556486107
rs1556486107
1.000 22 50525898 frameshift variant -/C delins
Mitochondrial DNA Depletion Syndrome 1
0.700 0
dbSNP: rs1556488264
rs1556488264
0.925 0.120 22 50527165 inframe deletion AGC/- delins
CUI: C0031117
Disease: Peripheral Neuropathy
Peripheral Neuropathy
0.700 0
dbSNP: rs1556488264
rs1556488264
0.925 0.120 22 50527165 inframe deletion AGC/- delins
CUI: C0262918
Disease: Extraocular Muscle Paresis
Extraocular Muscle Paresis
0.700 0
dbSNP: rs1556488264
rs1556488264
0.925 0.120 22 50527165 inframe deletion AGC/- delins
CUI: C1836923
Disease: Gastrointestinal dysmotility
Gastrointestinal dysmotility
0.700 0
dbSNP: rs1556488264
rs1556488264
0.925 0.120 22 50527165 inframe deletion AGC/- delins
Mitochondrial DNA Depletion Syndrome 1
0.700 0
dbSNP: rs28937868
rs28937868
1.000 0.200 22 50524014 missense variant C/T snv
Cardioencephalomyopathy, Fatal Infantile, due to Cytochrome C Oxidase Deficiency
0.800 0
dbSNP: rs74315510
rs74315510
0.925 0.240 22 50524255 stop gained G/A snv 8.4E-05 3.5E-05
Cardioencephalomyopathy, Fatal Infantile, due to Cytochrome C Oxidase Deficiency
0.700 0
dbSNP: rs74315510
rs74315510
0.925 0.240 22 50524255 stop gained G/A snv 8.4E-05 3.5E-05
CUI: C1837148
Disease: MYOPIA 6 (disorder)
MYOPIA 6 (disorder)
0.700 0
dbSNP: rs74315511
rs74315511
0.925 0.240 22 50523994 missense variant C/T snv 8.0E-05 1.1E-04
CUI: C0036572
Disease: Seizures
Seizures
0.700 0
dbSNP: rs74315511
rs74315511
0.925 0.240 22 50523994 missense variant C/T snv 8.0E-05 1.1E-04
CUI: C1837397
Disease: Severe global developmental delay
Severe global developmental delay
0.700 0
dbSNP: rs74315512
rs74315512
1.000 0.200 22 50524144 stop gained G/A snv 1.6E-05
Cardioencephalomyopathy, Fatal Infantile, due to Cytochrome C Oxidase Deficiency
0.700 0
dbSNP: rs761665644
rs761665644
0.925 0.120 22 50527606 missense variant T/G snv 8.0E-06
CUI: C0031117
Disease: Peripheral Neuropathy
Peripheral Neuropathy
0.700 0
dbSNP: rs761665644
rs761665644
0.925 0.120 22 50527606 missense variant T/G snv 8.0E-06
Mitochondrial DNA Depletion Syndrome 1
0.700 0
dbSNP: rs761665644
rs761665644
0.925 0.120 22 50527606 missense variant T/G snv 8.0E-06
CUI: C0262918
Disease: Extraocular Muscle Paresis
Extraocular Muscle Paresis
0.700 0
dbSNP: rs761665644
rs761665644
0.925 0.120 22 50527606 missense variant T/G snv 8.0E-06
CUI: C1836923
Disease: Gastrointestinal dysmotility
Gastrointestinal dysmotility
0.700 0
dbSNP: rs786205097
rs786205097
1.000 22 50525808 frameshift variant -/G delins
Mitochondrial DNA Depletion Syndrome 1
0.700 0
dbSNP: rs80358232
rs80358232
1.000 0.200 22 50523738 missense variant G/A;T snv 4.0E-06
Cardioencephalomyopathy, Fatal Infantile, due to Cytochrome C Oxidase Deficiency
0.800 0
dbSNP: rs121913036
rs121913036
1.000 22 50526638 missense variant T/G snv 5.3E-05 4.9E-05
Mitochondrial DNA Depletion Syndrome 1
0.700 1.000 5 1999 2013
dbSNP: rs121913040
rs121913040
1.000 22 50526474 missense variant C/A;G;T snv 1.2E-05; 1.2E-05
Mitochondrial DNA Depletion Syndrome 1
0.700 1.000 2 2005 2011
dbSNP: rs121913041
rs121913041
1.000 22 50527629 missense variant C/G;T snv 4.0E-06
Mitochondrial DNA Depletion Syndrome 1
0.700 1.000 2 2005 2009
dbSNP: rs797044455
rs797044455
1.000 22 50526142 splice acceptor variant C/G;T snv
Mitochondrial DNA Depletion Syndrome 1
0.700 1.000 2 1999 2000
dbSNP: rs1060499532
rs1060499532
1.000 22 50526338 missense variant A/G snv
Mitochondrial DNA Depletion Syndrome 1
0.700 1.000 1 2011 2011