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: 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: 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: 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: 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: rs201940931
rs201940931
XPC
1.000 0.160 3 14165587 splice acceptor variant T/C;G snv 4.0E-06; 1.2E-05
CUI: C2752147
Disease: XERODERMA PIGMENTOSUM, COMPLEMENTATION GROUP C
XERODERMA PIGMENTOSUM, COMPLEMENTATION GROUP C 		0.700 1.000 2 2006 2007
dbSNP: rs373519125
rs373519125
XPC
1.000 0.160 3 14164836 stop gained G/A;T snv 1.6E-05; 1.6E-05
CUI: C2752147
Disease: XERODERMA PIGMENTOSUM, COMPLEMENTATION GROUP C
XERODERMA PIGMENTOSUM, COMPLEMENTATION GROUP C 		0.700 1.000 2 2016 2017
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: 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: rs794729654
rs794729654
XPC
1.000 0.160 3 14158590 frameshift variant TT/- delins
CUI: C2752147
Disease: XERODERMA PIGMENTOSUM, COMPLEMENTATION GROUP C
XERODERMA PIGMENTOSUM, COMPLEMENTATION GROUP C 		0.700 1.000 2 2006 2016
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: 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: rs763678756
rs763678756
XPC ; LSM3
1.000 0.160 3 14178568 start lost T/A;C snv 4.0E-06; 5.2E-05
CUI: C2752147
Disease: XERODERMA PIGMENTOSUM, COMPLEMENTATION GROUP C
XERODERMA PIGMENTOSUM, COMPLEMENTATION GROUP C 		0.700 1.000 1 2009 2009
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: 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: 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: 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: 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: 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: 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