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: 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
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: rs1553606979
rs1553606979
XPC
1.000 0.160 3 14167171 frameshift variant GT/- delins
CUI: C2752147
Disease: XERODERMA PIGMENTOSUM, COMPLEMENTATION GROUP C
XERODERMA PIGMENTOSUM, COMPLEMENTATION GROUP C 		0.700 0
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: rs1553607419
rs1553607419
XPC
1.000 0.160 3 14170482 frameshift variant T/- delins
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: rs1553607773
rs1553607773
XPC
1.000 0.160 3 14173019 frameshift variant G/- 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: rs1553608637
rs1553608637
XPC ; LSM3
1.000 0.160 3 14178514 stop gained G/A 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: 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: 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: 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: 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: rs794729657
rs794729657
XPC
1.000 0.160 3 14168404 intron variant T/C;G snv
CUI: C2752147
Disease: XERODERMA PIGMENTOSUM, COMPLEMENTATION GROUP C
XERODERMA PIGMENTOSUM, COMPLEMENTATION GROUP C 		0.700 0
dbSNP: rs867461743
rs867461743
XPC
1.000 0.160 3 14159773 stop gained G/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: 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: 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: rs745679643
rs745679643
XPC
1.000 0.160 3 14165549 stop gained G/A snv 2.0E-05 1.4E-05
CUI: C2752147
Disease: XERODERMA PIGMENTOSUM, COMPLEMENTATION GROUP C
XERODERMA PIGMENTOSUM, COMPLEMENTATION GROUP C 		0.700 1.000 3 2000 2015