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: rs11479
rs11479
TYMP ; SCO2
0.925 0.080 22 50525807 stop gained G/A;C;T snv 0.13; 1.3E-05; 4.3E-06
CUI: C4551995
Disease: Mitochondrial DNA Depletion Syndrome 1
Mitochondrial DNA Depletion Syndrome 1 		0.700 1.000 1 2007 2007
dbSNP: rs201685922
rs201685922
TYMP ; SCO2
1.000 22 50526479 splice region variant CGGG/- delins 1.4E-02 1.3E-02
CUI: C4551995
Disease: Mitochondrial DNA Depletion Syndrome 1
Mitochondrial DNA Depletion Syndrome 1 		0.700 1.000 1 2000 2000
dbSNP: rs749838192
rs749838192
SCO2 ; NCAPH2
22 50524395 frameshift variant -/TGAGTCACTGCTGCATGCT ins 5.8E-04; 4.2E-06 8.9E-04
CUI: C0007193
Disease: Cardiomyopathy, Dilated
Cardiomyopathy, Dilated 		0.700 1.000 1 2010 2010
dbSNP: rs121913039
rs121913039
TYMP ; SCO2
1.000 22 50527612 missense variant C/T snv 3.3E-04 2.7E-04
CUI: C4551995
Disease: Mitochondrial DNA Depletion Syndrome 1
Mitochondrial DNA Depletion Syndrome 1 		0.700 1.000 1 2005 2005
dbSNP: rs74315510
rs74315510
SCO2 ; NCAPH2
0.925 0.240 22 50524255 stop gained G/A snv 8.4E-05 3.5E-05
CUI: C1858424
Disease: Cardioencephalomyopathy, Fatal Infantile, due to Cytochrome C Oxidase Deficiency
Cardioencephalomyopathy, Fatal Infantile, due to Cytochrome C Oxidase Deficiency 		0.700 0
dbSNP: rs74315510
rs74315510
SCO2 ; NCAPH2
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
SCO2 ; NCAPH2
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
SCO2 ; NCAPH2
0.925 0.240 22 50523994 missense variant C/T snv 8.0E-05 1.1E-04
CUI: C1837148
Disease: MYOPIA 6 (disorder)
MYOPIA 6 (disorder) 		0.800 1.000 0 2013 2015
dbSNP: rs74315511
rs74315511
SCO2 ; NCAPH2
0.925 0.240 22 50523994 missense variant C/T snv 8.0E-05 1.1E-04
CUI: C1858424
Disease: Cardioencephalomyopathy, Fatal Infantile, due to Cytochrome C Oxidase Deficiency
Cardioencephalomyopathy, Fatal Infantile, due to Cytochrome C Oxidase Deficiency 		0.800 1.000 0 1999 2015
dbSNP: rs74315511
rs74315511
SCO2 ; NCAPH2
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: rs121913036
rs121913036
TYMP ; SCO2
1.000 22 50526638 missense variant T/G snv 5.3E-05 4.9E-05
CUI: C4551995
Disease: Mitochondrial DNA Depletion Syndrome 1
Mitochondrial DNA Depletion Syndrome 1 		0.700 1.000 5 1999 2013
dbSNP: rs74315512
rs74315512
SCO2 ; NCAPH2
1.000 0.200 22 50524144 stop gained G/A snv 1.6E-05
CUI: C1858424
Disease: Cardioencephalomyopathy, Fatal Infantile, due to Cytochrome C Oxidase Deficiency
Cardioencephalomyopathy, Fatal Infantile, due to Cytochrome C Oxidase Deficiency 		0.700 0
dbSNP: rs121913040
rs121913040
TYMP ; SCO2
1.000 22 50526474 missense variant C/A;G;T snv 1.2E-05; 1.2E-05
CUI: C4551995
Disease: Mitochondrial DNA Depletion Syndrome 1
Mitochondrial DNA Depletion Syndrome 1 		0.700 1.000 2 2005 2011
dbSNP: rs149977726
rs149977726
TYMP ; SCO2
1.000 22 50527265 missense variant T/C snv 1.2E-05 9.8E-05
CUI: C4551995
Disease: Mitochondrial DNA Depletion Syndrome 1
Mitochondrial DNA Depletion Syndrome 1 		0.800 1.000 1 1999 2002
dbSNP: rs28937598
rs28937598
SCO2 ; NCAPH2
1.000 0.200 22 50523901 missense variant G/A snv 1.2E-05 7.0E-06
CUI: C1858424
Disease: Cardioencephalomyopathy, Fatal Infantile, due to Cytochrome C Oxidase Deficiency
Cardioencephalomyopathy, Fatal Infantile, due to Cytochrome C Oxidase Deficiency 		0.800 1.000 0 1999 2015
dbSNP: rs786205098
rs786205098
TYMP ; SCO2
1.000 22 50526103 inframe deletion CCAGCG/- delins 1.2E-05 2.1E-05
CUI: C4551995
Disease: Mitochondrial DNA Depletion Syndrome 1
Mitochondrial DNA Depletion Syndrome 1 		0.700 1.000 1 1999 1999
dbSNP: rs773785934
rs773785934
TYMP ; SCO2
1.000 22 50525919 splice acceptor variant C/A;T snv 9.2E-06
CUI: C4551995
Disease: Mitochondrial DNA Depletion Syndrome 1
Mitochondrial DNA Depletion Syndrome 1 		0.700 1.000 1 1999 1999
dbSNP: rs761665644
rs761665644
TYMP ; SCO2
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
TYMP ; SCO2
0.925 0.120 22 50527606 missense variant T/G snv 8.0E-06
CUI: C4551995
Disease: Mitochondrial DNA Depletion Syndrome 1
Mitochondrial DNA Depletion Syndrome 1 		0.700 0
dbSNP: rs761665644
rs761665644
TYMP ; SCO2
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
TYMP ; SCO2
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: rs1060499534
rs1060499534
TYMP ; SCO2
1.000 22 50526246 missense variant C/T snv 7.1E-06
CUI: C4551995
Disease: Mitochondrial DNA Depletion Syndrome 1
Mitochondrial DNA Depletion Syndrome 1 		0.700 1.000 1 2011 2011
dbSNP: rs121913041
rs121913041
TYMP ; SCO2
1.000 22 50527629 missense variant C/G;T snv 4.0E-06
CUI: C4551995
Disease: Mitochondrial DNA Depletion Syndrome 1
Mitochondrial DNA Depletion Syndrome 1 		0.700 1.000 2 2005 2009
dbSNP: rs80358232
rs80358232
SCO2 ; NCAPH2
1.000 0.200 22 50523738 missense variant G/A;T snv 4.0E-06
CUI: C1858424
Disease: Cardioencephalomyopathy, Fatal Infantile, due to Cytochrome C Oxidase Deficiency
Cardioencephalomyopathy, Fatal Infantile, due to Cytochrome C Oxidase Deficiency 		0.800 0
dbSNP: rs797044455
rs797044455
TYMP ; SCO2
1.000 22 50526142 splice acceptor variant C/G;T snv
CUI: C4551995
Disease: Mitochondrial DNA Depletion Syndrome 1
Mitochondrial DNA Depletion Syndrome 1 		0.700 1.000 2 1999 2000