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: 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: 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: 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: rs1556488264
rs1556488264
TYMP ; SCO2
0.925 0.120 22 50527165 inframe deletion AGC/- delins
CUI: C4551995
Disease: Mitochondrial DNA Depletion Syndrome 1
Mitochondrial DNA Depletion Syndrome 1 		0.700 0
dbSNP: rs1064792865
rs1064792865
TYMP ; SCO2
1.000 22 50527716 start lost A/C snv
CUI: C4551995
Disease: Mitochondrial DNA Depletion Syndrome 1
Mitochondrial DNA Depletion Syndrome 1 		0.700 1.000 1 2000 2000
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: rs767245071
rs767245071
TYMP
1.000 22 50529339 splice acceptor variant C/G snv 1.2E-05 4.2E-05
CUI: C4551995
Disease: Mitochondrial DNA Depletion Syndrome 1
Mitochondrial DNA Depletion Syndrome 1 		0.700 1.000 3 2004 2010
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
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: 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: rs1060499535
rs1060499535
TYMP ; SCO2
1.000 22 50526317 frameshift variant C/- delins
CUI: C4551995
Disease: Mitochondrial DNA Depletion Syndrome 1
Mitochondrial DNA Depletion Syndrome 1 		0.700 1.000 1 2009 2009
dbSNP: rs1064792880
rs1064792880
TYMP
1.000 22 50529610 frameshift variant -/G delins
CUI: C4551995
Disease: Mitochondrial DNA Depletion Syndrome 1
Mitochondrial DNA Depletion Syndrome 1 		0.700 1.000 1 2000 2000
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: rs1064792886
rs1064792886
TYMP
1.000 22 50529289 frameshift variant GG/- del
CUI: C4551995
Disease: Mitochondrial DNA Depletion Syndrome 1
Mitochondrial DNA Depletion Syndrome 1 		0.700 1.000 1 2011 2011
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: 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: 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: rs1471478620
rs1471478620
TYMP ; SCO2
1.000 22 50525910 frameshift variant -/G delins
CUI: C4551995
Disease: Mitochondrial DNA Depletion Syndrome 1
Mitochondrial DNA Depletion Syndrome 1 		0.700 0
dbSNP: rs1556486107
rs1556486107
TYMP ; SCO2
1.000 22 50525898 frameshift variant -/C delins
CUI: C4551995
Disease: Mitochondrial DNA Depletion Syndrome 1
Mitochondrial DNA Depletion Syndrome 1 		0.700 0
dbSNP: rs786205097
rs786205097
TYMP ; SCO2
1.000 22 50525808 frameshift variant -/G delins
CUI: C4551995
Disease: Mitochondrial DNA Depletion Syndrome 1
Mitochondrial DNA Depletion Syndrome 1 		0.700 0
dbSNP: rs1064792876
rs1064792876
TYMP ; SCO2
1.000 22 50526575 splice donor variant C/G;T snv
CUI: C4551995
Disease: Mitochondrial DNA Depletion Syndrome 1
Mitochondrial DNA Depletion Syndrome 1 		0.700 1.000 1 2005 2005