List of variants in gene XPC reported as not provided

Minimum submission review status:		Collection method:
Minimum conflict level: Report conflict between different conditions
Gene type: Distinguish antisense genes from sense genes
Show significances as they were submitted (without aggregation into standard terms)
		ClinVar version:

Total variants: 30

Download table as spreadsheet

HGVS	dbSNP	gnomAD frequency
NM_004628.5(XPC):c.2061G>A (p.Arg687=)	rs2227998	0.26212
NM_004628.5(XPC):c.1496C>T (p.Ala499Val)	rs2228000	0.21224
NM_004628.5(XPC):c.1475G>A (p.Arg492His)	rs2227999	0.03986
NM_004628.5(XPC):c.300G>A (p.Arg100=)	rs2228002	0.02396
NM_004628.5(XPC):c.142C>T (p.Leu48Phe)	rs2229089	0.02177
NM_004628.5(XPC):c.1001C>A (p.Pro334His)	rs74737358	0.00806
NM_004628.5(XPC):c.1841T>C (p.Phe614Ser)	rs144766677	0.00716
NM_004628.5(XPC):c.860T>G (p.Phe287Cys)	rs35629274	0.00642
NM_004628.5(XPC):c.2066C>T (p.Thr689Met)	rs3731152	0.00315
NM_004628.5(XPC):c.872C>G (p.Ser291Cys)	rs184879571	0.00304
NM_004628.5(XPC):c.2782A>C (p.Lys928Gln)	rs3731177	0.00285
NM_004628.5(XPC):c.1780C>T (p.Arg594Cys)	rs183238369	0.00126
NM_004628.5(XPC):c.1177C>T (p.Arg393Trp)	rs121965090	0.00098
NM_004628.5(XPC):c.1539G>C (p.Met513Ile)	rs3731130	0.00064
NM_004628.5(XPC):c.2404G>A (p.Gly802Ser)	rs200148127	0.00031
NM_004628.5(XPC):c.2633C>G (p.Ala878Gly)	rs183167499	0.00006
NM_004628.5(XPC):c.736C>T (p.Pro246Ser)	rs587778761	0.00004
NM_004628.5(XPC):c.1022C>G (p.Ala341Gly)	rs192285219	0.00003
NM_004628.5(XPC):c.2621C>T (p.Pro874Leu)	rs375859472	0.00003
NM_004628.5(XPC):c.597A>C (p.Lys199Asn)	rs587778759	0.00003
NM_004628.5(XPC):c.755A>G (p.Tyr252Cys)	rs587778760	0.00003
NM_004628.5(XPC):c.478G>T (p.Val160Leu)	rs587778763	0.00002
NM_004628.5(XPC):c.718C>T (p.Arg240Cys)	rs552222088	0.00002
NM_004628.5(XPC):c.1229A>G (p.Glu410Gly)	rs587778762	0.00001
NM_004628.5(XPC):c.1921T>C (p.Tyr641His)	rs587778758	0.00001
NM_004628.5(XPC):c.2537G>C (p.Gly846Ala)	rs55779831	0.00001
GRCh37/hg19 3p25.1(chr3:14188805-14189498)x1
NM_004628.5(XPC):c.1000C>T (p.Pro334Ser)	rs200338014
NM_004628.5(XPC):c.1643_1644del (p.Val548fs)	rs754532049
NM_004628.5(XPC):c.1872+2T>C	rs2125024504

The information on this website is not intended for direct diagnostic use or medical decision-making without review by a genetics professional. Individuals should not change their health behavior solely on the basis of information contained on this website. Neither the University of Utah nor the National Institutes of Health independently verfies the submitted information. If you have questions about the information contained on this website, please see a health care professional.