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: rs1553604549
rs1553604549
XPC ; LOC107986063
1.000 0.160 3 14148645 frameshift variant -/A delins
CUI: C2752147
Disease: XERODERMA PIGMENTOSUM, COMPLEMENTATION GROUP C
XERODERMA PIGMENTOSUM, COMPLEMENTATION GROUP C 		0.700 0
dbSNP: rs1553605805
rs1553605805
XPC
1.000 0.160 3 14158589 frameshift variant -/A ins
CUI: C2752147
Disease: XERODERMA PIGMENTOSUM, COMPLEMENTATION GROUP C
XERODERMA PIGMENTOSUM, COMPLEMENTATION GROUP C 		0.700 0
dbSNP: rs1553605973
rs1553605973
XPC
1.000 0.160 3 14159815 frameshift variant -/A delins
CUI: C2752147
Disease: XERODERMA PIGMENTOSUM, COMPLEMENTATION GROUP C
XERODERMA PIGMENTOSUM, COMPLEMENTATION GROUP C 		0.700 0
dbSNP: rs1208223013
rs1208223013
XPC
1.000 0.160 3 14170440 frameshift variant -/C delins 4.0E-06
CUI: C2752147
Disease: XERODERMA PIGMENTOSUM, COMPLEMENTATION GROUP C
XERODERMA PIGMENTOSUM, COMPLEMENTATION GROUP C 		0.700 0
dbSNP: rs1309116467
rs1309116467
XPC ; LOC107986063
1.000 0.160 3 14148869 frameshift variant -/G delins 2.1E-05
CUI: C2752147
Disease: XERODERMA PIGMENTOSUM, COMPLEMENTATION GROUP C
XERODERMA PIGMENTOSUM, COMPLEMENTATION GROUP C 		0.700 0
dbSNP: rs1553604552
rs1553604552
XPC ; LOC107986063
1.000 0.160 3 14148650 frameshift variant -/G delins
CUI: C2752147
Disease: XERODERMA PIGMENTOSUM, COMPLEMENTATION GROUP C
XERODERMA PIGMENTOSUM, COMPLEMENTATION GROUP C 		0.700 0
dbSNP: rs1553605871
rs1553605871
XPC
1.000 0.160 3 14158739 frameshift variant -/G delins
CUI: C2752147
Disease: XERODERMA PIGMENTOSUM, COMPLEMENTATION GROUP C
XERODERMA PIGMENTOSUM, COMPLEMENTATION GROUP C 		0.700 0
dbSNP: rs1553605761
rs1553605761
XPC
1.000 0.160 3 14158461 frameshift variant -/T delins
CUI: C2752147
Disease: XERODERMA PIGMENTOSUM, COMPLEMENTATION GROUP C
XERODERMA PIGMENTOSUM, COMPLEMENTATION GROUP C 		0.700 1.000 1 2013 2013
dbSNP: rs1553607144
rs1553607144
XPC
1.000 0.160 3 14168277 frameshift variant -/T delins
CUI: C2752147
Disease: XERODERMA PIGMENTOSUM, COMPLEMENTATION GROUP C
XERODERMA PIGMENTOSUM, COMPLEMENTATION GROUP C 		0.700 0
dbSNP: rs1553608616
rs1553608616
XPC ; LSM3
1.000 0.160 3 14178464 splice donor variant A/C snv
CUI: C2752147
Disease: XERODERMA PIGMENTOSUM, COMPLEMENTATION GROUP C
XERODERMA PIGMENTOSUM, COMPLEMENTATION GROUP C 		0.700 0
dbSNP: rs794729655
rs794729655
XPC
1.000 0.160 3 14156333 splice donor variant A/C snv
CUI: C2752147
Disease: XERODERMA PIGMENTOSUM, COMPLEMENTATION GROUP C
XERODERMA PIGMENTOSUM, COMPLEMENTATION GROUP C 		0.700 0
dbSNP: rs794729656
rs794729656
XPC
1.000 0.160 3 14168389 intron variant A/G;T snv
CUI: C2752147
Disease: XERODERMA PIGMENTOSUM, COMPLEMENTATION GROUP C
XERODERMA PIGMENTOSUM, COMPLEMENTATION GROUP C 		0.700 0
dbSNP: rs1553605795
rs1553605795
XPC
1.000 0.160 3 14158554 frameshift variant AG/- delins
CUI: C2752147
Disease: XERODERMA PIGMENTOSUM, COMPLEMENTATION GROUP C
XERODERMA PIGMENTOSUM, COMPLEMENTATION GROUP C 		0.700 0
dbSNP: rs752088918
rs752088918
XPC
0.925 0.160 3 14167223 frameshift variant AT/- delins 2.4E-05 2.1E-05
CUI: C2752147
Disease: XERODERMA PIGMENTOSUM, COMPLEMENTATION GROUP C
XERODERMA PIGMENTOSUM, COMPLEMENTATION GROUP C 		0.700 1.000 3 2000 2006
dbSNP: rs1553605023
rs1553605023
XPC
1.000 0.160 3 14152349 stop gained C/A snv
CUI: C2752147
Disease: XERODERMA PIGMENTOSUM, COMPLEMENTATION GROUP C
XERODERMA PIGMENTOSUM, COMPLEMENTATION GROUP C 		0.700 0
dbSNP: rs975121308
rs975121308
XPC
1.000 0.160 3 14165427 splice donor variant C/A;T snv 7.0E-06
CUI: C2752147
Disease: XERODERMA PIGMENTOSUM, COMPLEMENTATION GROUP C
XERODERMA PIGMENTOSUM, COMPLEMENTATION GROUP C 		0.700 1.000 1 2013 2013
dbSNP: rs1423398589
rs1423398589
XPC ; LSM3
1.000 0.160 3 14178465 splice donor variant C/A;T snv
CUI: C2752147
Disease: XERODERMA PIGMENTOSUM, COMPLEMENTATION GROUP C
XERODERMA PIGMENTOSUM, COMPLEMENTATION GROUP C 		0.700 0
dbSNP: rs754197041
rs754197041
XPC
1.000 0.160 3 14158502 stop gained C/A;T snv
CUI: C2752147
Disease: XERODERMA PIGMENTOSUM, COMPLEMENTATION GROUP C
XERODERMA PIGMENTOSUM, COMPLEMENTATION GROUP C 		0.700 0
dbSNP: rs770308917
rs770308917
XPC ; LOC107986063
1.000 0.160 3 14148846 stop gained C/A;T snv 4.0E-06; 8.0E-06; 4.0E-06
CUI: C2752147
Disease: XERODERMA PIGMENTOSUM, COMPLEMENTATION GROUP C
XERODERMA PIGMENTOSUM, COMPLEMENTATION GROUP C 		0.700 0
dbSNP: rs1326646197
rs1326646197
XPC
1.000 0.160 3 14167254 splice acceptor variant C/G snv
CUI: C2752147
Disease: XERODERMA PIGMENTOSUM, COMPLEMENTATION GROUP C
XERODERMA PIGMENTOSUM, COMPLEMENTATION GROUP C 		0.700 0
dbSNP: rs1559374923
rs1559374923
XPC
1.000 0.160 3 14158010 splice donor variant C/G snv
CUI: C2752147
Disease: XERODERMA PIGMENTOSUM, COMPLEMENTATION GROUP C
XERODERMA PIGMENTOSUM, COMPLEMENTATION GROUP C 		0.700 0
dbSNP: rs754673606
rs754673606
XPC ; LOC107986063
0.925 0.160 3 14148732 splice acceptor variant C/G;T snv 2.4E-05
CUI: C2752147
Disease: XERODERMA PIGMENTOSUM, COMPLEMENTATION GROUP C
XERODERMA PIGMENTOSUM, COMPLEMENTATION GROUP C 		0.700 1.000 1 2011 2011
dbSNP: rs1553604620
rs1553604620
XPC ; LOC107986063
1.000 0.160 3 14148949 splice acceptor variant C/T snv
CUI: C2752147
Disease: XERODERMA PIGMENTOSUM, COMPLEMENTATION GROUP C
XERODERMA PIGMENTOSUM, COMPLEMENTATION GROUP C 		0.700 0
dbSNP: rs1553607744
rs1553607744
XPC
1.000 0.160 3 14172866 splice donor variant C/T snv
CUI: C2752147
Disease: XERODERMA PIGMENTOSUM, COMPLEMENTATION GROUP C
XERODERMA PIGMENTOSUM, COMPLEMENTATION GROUP C 		0.700 0
dbSNP: rs764480429
rs764480429
XPC
1.000 0.160 3 14156334 splice donor variant C/T snv 4.0E-06 2.1E-05
CUI: C2752147
Disease: XERODERMA PIGMENTOSUM, COMPLEMENTATION GROUP C
XERODERMA PIGMENTOSUM, COMPLEMENTATION GROUP C 		0.700 0