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: 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: 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: rs1228981894
rs1228981894
XPC
1.000 0.160 3 14170507 frameshift variant CT/- delins 4.0E-06 7.0E-06
CUI: C2752147
Disease: XERODERMA PIGMENTOSUM, COMPLEMENTATION GROUP C
XERODERMA PIGMENTOSUM, COMPLEMENTATION GROUP C 		0.700 1.000 1 2013 2013
dbSNP: rs1260189637
rs1260189637
XPC
1.000 0.160 3 14173038 frameshift variant G/- delins 1.4E-05
CUI: C2752147
Disease: XERODERMA PIGMENTOSUM, COMPLEMENTATION GROUP C
XERODERMA PIGMENTOSUM, COMPLEMENTATION GROUP C 		0.700 1.000 1 2000 2000
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: 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: 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: rs1330667099
rs1330667099
XPC
1.000 0.160 3 14168370 frameshift variant CACT/- delins
CUI: C2752147
Disease: XERODERMA PIGMENTOSUM, COMPLEMENTATION GROUP C
XERODERMA PIGMENTOSUM, COMPLEMENTATION GROUP C 		0.700 1.000 2 2006 2016
dbSNP: rs1402162002
rs1402162002
XPC
1.000 0.160 3 14168347 frameshift variant TC/- delins 1.2E-05 7.0E-06
CUI: C2752147
Disease: XERODERMA PIGMENTOSUM, COMPLEMENTATION GROUP C
XERODERMA PIGMENTOSUM, COMPLEMENTATION GROUP C 		0.700 1.000 2 2007 2016
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: rs1450238352
rs1450238352
XPC
1.000 0.160 3 14158779 frameshift variant TT/- del 2.1E-05
CUI: C2752147
Disease: XERODERMA PIGMENTOSUM, COMPLEMENTATION GROUP C
XERODERMA PIGMENTOSUM, COMPLEMENTATION GROUP C 		0.700 1.000 1 2016 2016
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: 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: 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: 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: 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: 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: 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: 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: 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: rs1553605813
rs1553605813
XPC
1.000 0.160 3 14158590 frameshift variant TTTAT/- del
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: rs1553605894
rs1553605894
XPC
1.000 0.160 3 14158894 splice acceptor variant T/C snv
CUI: C2752147
Disease: XERODERMA PIGMENTOSUM, COMPLEMENTATION GROUP C
XERODERMA PIGMENTOSUM, COMPLEMENTATION GROUP C 		0.700 0