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: rs1064792877
rs1064792877
TYMP ; SCO2
1.000 22 50526143 splice acceptor variant T/C;G snv
CUI: C4551995
Disease: Mitochondrial DNA Depletion Syndrome 1
Mitochondrial DNA Depletion Syndrome 1 		0.700 1.000 1 2011 2011
dbSNP: rs1064792878
rs1064792878
TYMP ; SCO2
1.000 22 50526000 splice donor variant C/T snv 7.0E-06
CUI: C4551995
Disease: Mitochondrial DNA Depletion Syndrome 1
Mitochondrial DNA Depletion Syndrome 1 		0.700 1.000 1 2009 2009
dbSNP: rs1064792879
rs1064792879
TYMP ; SCO2
1.000 22 50525999 splice donor variant A/G;T snv
CUI: C4551995
Disease: Mitochondrial DNA Depletion Syndrome 1
Mitochondrial DNA Depletion Syndrome 1 		0.700 1.000 1 2003 2003
dbSNP: rs1064792881
rs1064792881
TYMP ; SCO2
1.000 22 50526393 inframe insertion -/CCGTCGTCCAGCGCCGCG delins
CUI: C4551995
Disease: Mitochondrial DNA Depletion Syndrome 1
Mitochondrial DNA Depletion Syndrome 1 		0.700 1.000 1 2002 2002
dbSNP: rs1064792885
rs1064792885
TYMP ; SCO2
1.000 22 50525787 frameshift variant -/A delins
CUI: C4551995
Disease: Mitochondrial DNA Depletion Syndrome 1
Mitochondrial DNA Depletion Syndrome 1 		0.700 1.000 1 2009 2009
dbSNP: rs1064792887
rs1064792887
TYMP ; SCO2
1.000 22 50527210 frameshift variant G/- delins
CUI: C4551995
Disease: Mitochondrial DNA Depletion Syndrome 1
Mitochondrial DNA Depletion Syndrome 1 		0.700 1.000 1 2002 2002
dbSNP: rs1064792888
rs1064792888
TYMP ; SCO2
1.000 22 50526720 frameshift variant G/- delins
CUI: C4551995
Disease: Mitochondrial DNA Depletion Syndrome 1
Mitochondrial DNA Depletion Syndrome 1 		0.700 1.000 1 2005 2005
dbSNP: rs1064792889
rs1064792889
TYMP ; SCO2
1.000 22 50525908 frameshift variant C/- delins
CUI: C4551995
Disease: Mitochondrial DNA Depletion Syndrome 1
Mitochondrial DNA Depletion Syndrome 1 		0.700 1.000 1 2011 2011
dbSNP: rs1064792890
rs1064792890
TYMP ; SCO2
1.000 22 50525873 frameshift variant CTGAGCGCGGGGCCGTCCCG/- delins
CUI: C4551995
Disease: Mitochondrial DNA Depletion Syndrome 1
Mitochondrial DNA Depletion Syndrome 1 		0.700 1.000 1 2005 2005
dbSNP: rs1064792891
rs1064792891
TYMP ; SCO2
1.000 22 50525819 inframe deletion AATGGC/- del
CUI: C4551995
Disease: Mitochondrial DNA Depletion Syndrome 1
Mitochondrial DNA Depletion Syndrome 1 		0.700 1.000 1 2011 2011
dbSNP: rs1064792892
rs1064792892
TYMP ; SCO2
1.000 22 50526386 frameshift variant AGGGCCGAGC/TT delins
CUI: C4551995
Disease: Mitochondrial DNA Depletion Syndrome 1
Mitochondrial DNA Depletion Syndrome 1 		0.700 1.000 1 2011 2011
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: 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: rs121913042
rs121913042
TYMP ; SCO2
1.000 22 50526650 missense variant A/G snv 7.0E-06
CUI: C4551995
Disease: Mitochondrial DNA Depletion Syndrome 1
Mitochondrial DNA Depletion Syndrome 1 		0.700 1.000 1 2005 2005
dbSNP: rs1556486029
rs1556486029
TYMP ; SCO2
1.000 22 50525867 frameshift variant -/G delins
CUI: C4551995
Disease: Mitochondrial DNA Depletion Syndrome 1
Mitochondrial DNA Depletion Syndrome 1 		0.700 1.000 1 1999 1999
dbSNP: rs1556486467
rs1556486467
TYMP ; SCO2
1.000 22 50526089 frameshift variant -/A delins
CUI: C4551995
Disease: Mitochondrial DNA Depletion Syndrome 1
Mitochondrial DNA Depletion Syndrome 1 		0.700 1.000 1 2004 2004
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: rs764275775
rs764275775
TYMP ; SCO2
1.000 22 50525859 missense variant C/A;G snv
CUI: C4551995
Disease: Mitochondrial DNA Depletion Syndrome 1
Mitochondrial DNA Depletion Syndrome 1 		0.700 1.000 1 2011 2011
dbSNP: rs770277446
rs770277446
TYMP ; SCO2
1.000 22 50526244 splice donor variant A/G;T snv
CUI: C4551995
Disease: Mitochondrial DNA Depletion Syndrome 1
Mitochondrial DNA Depletion Syndrome 1 		0.700 1.000 1 2003 2003
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: 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: rs866001342
rs866001342
TYMP ; SCO2
1.000 22 50526648 stop gained C/A;T snv
CUI: C4551995
Disease: Mitochondrial DNA Depletion Syndrome 1
Mitochondrial DNA Depletion Syndrome 1 		0.700 1.000 1 2005 2005
dbSNP: rs892141220
rs892141220
TYMP ; SCO2
1.000 22 50526467 missense variant A/G snv
CUI: C4551995
Disease: Mitochondrial DNA Depletion Syndrome 1
Mitochondrial DNA Depletion Syndrome 1 		0.700 1.000 1 2004 2004
dbSNP: rs946234163
rs946234163
TYMP ; SCO2
1.000 22 50526639 missense variant C/T snv 7.0E-06
CUI: C4551995
Disease: Mitochondrial DNA Depletion Syndrome 1
Mitochondrial DNA Depletion Syndrome 1 		0.700 1.000 1 2000 2000