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: rs1554076309
rs1554076309
ERCC8 ; NDUFAF2
1.000 5 60945264 stop gained G/A snv
CUI: C4748768
Disease: MITOCHONDRIAL COMPLEX I DEFICIENCY, NUCLEAR TYPE 10
MITOCHONDRIAL COMPLEX I DEFICIENCY, NUCLEAR TYPE 10 		0.700 1.000 1 2010 2010
dbSNP: rs1554076306
rs1554076306
ERCC8 ; NDUFAF2
1.000 5 60945256 start lost A/T snv
CUI: C4748768
Disease: MITOCHONDRIAL COMPLEX I DEFICIENCY, NUCLEAR TYPE 10
MITOCHONDRIAL COMPLEX I DEFICIENCY, NUCLEAR TYPE 10 		0.700 0
dbSNP: rs1554076324
rs1554076324
ERCC8 ; NDUFAF2
1.000 5 60945358 frameshift variant A/- del
CUI: C4748768
Disease: MITOCHONDRIAL COMPLEX I DEFICIENCY, NUCLEAR TYPE 10
MITOCHONDRIAL COMPLEX I DEFICIENCY, NUCLEAR TYPE 10 		0.700 0
dbSNP: rs199754807
rs199754807
ERCC8 ; NDUFAF2
1.000 5 60945369 stop gained C/G snv 5.6E-05 2.8E-05
CUI: C4748768
Disease: MITOCHONDRIAL COMPLEX I DEFICIENCY, NUCLEAR TYPE 10
MITOCHONDRIAL COMPLEX I DEFICIENCY, NUCLEAR TYPE 10 		0.700 0
dbSNP: rs281875221
rs281875221
ERCC8
1.000 5 60887479 missense variant C/A snv
CUI: C3553298
Disease: UV-SENSITIVE SYNDROME 2
UV-SENSITIVE SYNDROME 2 		0.800 1.000 0 2009 2009
dbSNP: rs201464610
rs201464610
ERCC8
1.000 0.160 5 60899728 splice acceptor variant C/A;T snv 4.0E-06; 1.2E-05
CUI: C0751039
Disease: Cockayne Syndrome, Type I
Cockayne Syndrome, Type I 		0.700 1.000 2 2006 2016
dbSNP: rs774047625
rs774047625
ERCC8 ; ERCC8-AS1
1.000 0.160 5 60918264 splice donor variant C/G;T snv 4.0E-06
CUI: C0751039
Disease: Cockayne Syndrome, Type I
Cockayne Syndrome, Type I 		0.700 1.000 2 2006 2015
dbSNP: rs1131691783
rs1131691783
ERCC8 ; ERCC8-AS1
1.000 0.160 5 60918367 frameshift variant TCT/CA delins
CUI: C0751039
Disease: Cockayne Syndrome, Type I
Cockayne Syndrome, Type I 		0.700 1.000 1 2016 2016
dbSNP: rs121434324
rs121434324
ERCC8 ; NDUFAF2
1.000 0.160 5 60944972 stop gained C/A snv 7.6E-05 4.9E-05
CUI: C0751039
Disease: Cockayne Syndrome, Type I
Cockayne Syndrome, Type I 		0.710 1.000 1 2004 2010
dbSNP: rs1404477615
rs1404477615
ERCC8 ; ERCC8-AS1
1.000 0.160 5 60918350 frameshift variant CA/- delins
CUI: C0751039
Disease: Cockayne Syndrome, Type I
Cockayne Syndrome, Type I 		0.700 1.000 1 2006 2006
dbSNP: rs143367518
rs143367518
ERCC8 ; ERCC8-AS1
1.000 0.160 5 60918364 stop gained G/C snv 1.6E-05 3.5E-05
CUI: C0751039
Disease: Cockayne Syndrome, Type I
Cockayne Syndrome, Type I 		0.700 1.000 1 2010 2010
dbSNP: rs1468231556
rs1468231556
ERCC8
1.000 0.160 5 60902458 frameshift variant -/A delins 1.4E-05
CUI: C0751039
Disease: Cockayne Syndrome, Type I
Cockayne Syndrome, Type I 		0.700 1.000 1 2012 2012
dbSNP: rs1554073316
rs1554073316
ERCC8
1.000 0.160 5 60902509 splice acceptor variant C/T snv
CUI: C0751039
Disease: Cockayne Syndrome, Type I
Cockayne Syndrome, Type I 		0.700 1.000 1 2010 2010
dbSNP: rs774542633
rs774542633
ERCC8 ; ERCC8-AS1
1.000 0.160 5 60918266 frameshift variant ATGTA/- delins 4.0E-06
CUI: C0751039
Disease: Cockayne Syndrome, Type I
Cockayne Syndrome, Type I 		0.700 1.000 1 2017 2017
dbSNP: rs121434323
rs121434323
ERCC8
0.925 0.160 5 60890964 stop gained G/C;T snv 4.0E-06
CUI: C0751039
Disease: Cockayne Syndrome, Type I
Cockayne Syndrome, Type I 		0.700 0
dbSNP: rs121434325
rs121434325
ERCC8
1.000 0.160 5 60904794 missense variant G/A snv 8.0E-06 7.1E-06
CUI: C0751039
Disease: Cockayne Syndrome, Type I
Cockayne Syndrome, Type I 		0.800 1.000 0 2004 2010
dbSNP: rs1305258765
rs1305258765
ERCC8
1.000 0.160 5 60898275 splice donor variant C/A snv 7.0E-06
CUI: C0751039
Disease: Cockayne Syndrome, Type I
Cockayne Syndrome, Type I 		0.700 0
dbSNP: rs1476095782
rs1476095782
ERCC8
1.000 0.160 5 60928863 splice donor variant C/T snv 8.0E-06
CUI: C0751039
Disease: Cockayne Syndrome, Type I
Cockayne Syndrome, Type I 		0.700 0
dbSNP: rs1482664387
rs1482664387
ERCC8
1.000 0.160 5 60887439 splice donor variant C/T snv 7.0E-06
CUI: C0751039
Disease: Cockayne Syndrome, Type I
Cockayne Syndrome, Type I 		0.700 0
dbSNP: rs1554072713
rs1554072713
ERCC8
1.000 0.160 5 60891002 frameshift variant C/- del
CUI: C0751039
Disease: Cockayne Syndrome, Type I
Cockayne Syndrome, Type I 		0.700 0
dbSNP: rs1554073117
rs1554073117
ERCC8
1.000 0.160 5 60898402 splice acceptor variant T/A;C snv
CUI: C0751039
Disease: Cockayne Syndrome, Type I
Cockayne Syndrome, Type I 		0.700 0
dbSNP: rs1554073175
rs1554073175
ERCC8
1.000 0.160 5 60899666 frameshift variant C/- del
CUI: C0751039
Disease: Cockayne Syndrome, Type I
Cockayne Syndrome, Type I 		0.700 0
dbSNP: rs1554073177
rs1554073177
ERCC8
1.000 0.160 5 60899693 stop gained -/TCTCA delins
CUI: C0751039
Disease: Cockayne Syndrome, Type I
Cockayne Syndrome, Type I 		0.700 0
dbSNP: rs1554073420
rs1554073420
ERCC8
1.000 0.160 5 60903718 splice acceptor variant T/C snv
CUI: C0751039
Disease: Cockayne Syndrome, Type I
Cockayne Syndrome, Type I 		0.700 0
dbSNP: rs1554074597
rs1554074597
ERCC8 ; ERCC8-AS1
1.000 0.160 5 60918390 splice acceptor variant T/C snv
CUI: C0751039
Disease: Cockayne Syndrome, Type I
Cockayne Syndrome, Type I 		0.700 0