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: 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: rs1281090187
rs1281090187
XPC ; LOC107986063
1.000 0.160 3 14148665 stop gained G/A snv
CUI: C2752147
Disease: XERODERMA PIGMENTOSUM, COMPLEMENTATION GROUP C
XERODERMA PIGMENTOSUM, COMPLEMENTATION GROUP C 		0.700 0
dbSNP: rs1553604559
rs1553604559
XPC ; LOC107986063
1.000 0.160 3 14148695 frameshift variant G/- delins
CUI: C2752147
Disease: XERODERMA PIGMENTOSUM, COMPLEMENTATION GROUP C
XERODERMA PIGMENTOSUM, COMPLEMENTATION GROUP C 		0.700 1.000 2 2010 2015
dbSNP: rs786205206
rs786205206
XPC ; LOC107986063
1.000 0.160 3 14148720 frameshift variant G/- del
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: rs1553604570
rs1553604570
XPC ; LOC107986063
1.000 0.160 3 14148733 splice acceptor variant T/C 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: 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: rs754775337
rs754775337
XPC ; LOC107986063
1.000 0.160 3 14148912 stop gained G/A snv
CUI: C2752147
Disease: XERODERMA PIGMENTOSUM, COMPLEMENTATION GROUP C
XERODERMA PIGMENTOSUM, COMPLEMENTATION GROUP C 		0.700 1.000 3 2000 2015
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: 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: rs374117852
rs374117852
XPC
0.925 0.160 3 14152376 stop gained T/A snv 3.5E-05
CUI: C2752147
Disease: XERODERMA PIGMENTOSUM, COMPLEMENTATION GROUP C
XERODERMA PIGMENTOSUM, COMPLEMENTATION GROUP C 		0.700 1.000 2 2006 2013
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: 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
dbSNP: rs1553605497
rs1553605497
XPC
1.000 0.160 3 14156434 frameshift variant G/- delins
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: rs752030576
rs752030576
XPC
1.000 0.160 3 14158132 frameshift variant CT/- delins 8.0E-06
CUI: C2752147
Disease: XERODERMA PIGMENTOSUM, COMPLEMENTATION GROUP C
XERODERMA PIGMENTOSUM, COMPLEMENTATION GROUP C 		0.700 0
dbSNP: rs121965088
rs121965088
XPC
1.000 0.160 3 14158148 stop gained G/A snv 1.2E-05
CUI: C2752147
Disease: XERODERMA PIGMENTOSUM, COMPLEMENTATION GROUP C
XERODERMA PIGMENTOSUM, COMPLEMENTATION GROUP C 		0.700 1.000 4 2000 2015
dbSNP: rs1553605655
rs1553605655
XPC
1.000 0.160 3 14158197 frameshift variant G/- delins
CUI: C2752147
Disease: XERODERMA PIGMENTOSUM, COMPLEMENTATION GROUP C
XERODERMA PIGMENTOSUM, COMPLEMENTATION GROUP C 		0.700 0
dbSNP: rs767569346
rs767569346
XPC
1.000 0.160 3 14158206 stop gained G/A;C;T snv 1.2E-05; 4.0E-06
CUI: C2752147
Disease: XERODERMA PIGMENTOSUM, COMPLEMENTATION GROUP C
XERODERMA PIGMENTOSUM, COMPLEMENTATION GROUP C 		0.700 1.000 2 2013 2015
dbSNP: rs754532049
rs754532049
XPC
0.925 0.160 3 14158239 frameshift variant CA/- delins 2.0E-05 3.5E-05
CUI: C2752147
Disease: XERODERMA PIGMENTOSUM, COMPLEMENTATION GROUP C
XERODERMA PIGMENTOSUM, COMPLEMENTATION GROUP C 		0.700 1.000 4 2008 2010
dbSNP: rs746250060
rs746250060
XPC
1.000 0.160 3 14158319 stop gained T/A;C snv
CUI: C2752147
Disease: XERODERMA PIGMENTOSUM, COMPLEMENTATION GROUP C
XERODERMA PIGMENTOSUM, COMPLEMENTATION GROUP C 		0.700 1.000 2 2006 2015
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: 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