List of variants reported as likely pathogenic for dihydropyrimidine dehydrogenase deficiency by Genome-Nilou Lab

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

Total variants: 17

Download table as spreadsheet

HGVS	dbSNP	gnomAD frequency
NM_000110.4(DPYD):c.2579del (p.Gln860fs)	rs746991079	0.00006
NM_000110.4(DPYD):c.1681C>T (p.Arg561Ter)	rs1057516968	0.00004
NM_000110.4(DPYD):c.2275C>T (p.Arg759Ter)	rs759372918	0.00004
NM_000110.4(DPYD):c.257C>T (p.Pro86Leu)	rs568132506	0.00004
NM_000110.4(DPYD):c.208C>T (p.Arg70Ter)	rs141597515	0.00003
NM_000110.4(DPYD):c.127_134del (p.Lys42_Arg43insTer)	rs1207177925	0.00001
NM_000110.4(DPYD):c.1863G>A (p.Trp621Ter)	rs1057516388	0.00001
NM_000110.4(DPYD):c.3G>A (p.Met1Ile)	rs768020954	0.00001
NM_000110.4(DPYD):c.61C>T (p.Arg21Ter)	rs72549310	0.00001
NM_000110.4(DPYD):c.661G>T (p.Glu221Ter)	rs146170505	0.00001
NM_000110.4(DPYD):c.1109_1110del (p.Ile370fs)	rs749571474
NM_000110.4(DPYD):c.1379dup (p.Leu461fs)	rs779948148
NM_000110.4(DPYD):c.1905+1G>C	rs3918290
NM_000110.4(DPYD):c.1977_1983del	rs1440380546
NM_000110.4(DPYD):c.2043_2058del (p.Leu682fs)	rs773499329
NM_000110.4(DPYD):c.233+1G>T	rs1553247675
NM_000110.4(DPYD):c.2622+1G>A	rs1057517095

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.