List of variants reported as uncertain significance for dihydropyrimidinuria

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: 28

Download table as spreadsheet

HGVS	dbSNP	gnomAD frequency
NM_001385.3(DPYS):c.264+5C>T	rs672601293	0.00116
NM_001385.3(DPYS):c.*205G>A	rs146388435	0.00049
NM_001385.3(DPYS):c.603+5G>A	rs377073619	0.00045
NM_001385.3(DPYS):c.*345A>T	rs758496769	0.00028
NM_001385.3(DPYS):c.1027A>G (p.Thr343Ala)	rs201457190	0.00021
NM_001385.3(DPYS):c.1469G>A (p.Arg490His)	rs189448963	0.00021
NM_001385.3(DPYS):c.177C>G (p.Val59=)	rs568135080	0.00011
NM_001385.3(DPYS):c.*14G>A	rs372257678	0.00007
NM_001385.3(DPYS):c.342C>T (p.Phe114=)	rs538642538	0.00006
NM_001385.3(DPYS):c.381C>T (p.Cys127=)	rs151111879	0.00006
NM_001385.3(DPYS):c.*200T>C	rs577662244	0.00005
NM_001385.3(DPYS):c.131G>T (p.Gly44Val)	rs367711099	0.00005
NM_001385.3(DPYS):c.817A>G (p.Ile273Val)	rs201924473	0.00005
NM_001385.3(DPYS):c.1063C>T (p.Arg355Trp)	rs559507379	0.00003
NM_001385.3(DPYS):c.529G>A (p.Glu177Lys)	rs765884757	0.00003
NM_001385.3(DPYS):c.111C>T (p.His37=)	rs370264718	0.00002
NM_001385.3(DPYS):c.*70A>T	rs781457040	0.00001
NM_001385.3(DPYS):c.1433A>C (p.Gln478Pro)	rs765274405	0.00001
NM_001385.3(DPYS):c.242A>G (p.Asp81Gly)	rs951179754	0.00001
NM_001385.3(DPYS):c.264+10C>T	rs1013557835	0.00001
NM_001385.3(DPYS):c.461G>C (p.Gly154Ala)	rs781328295	0.00001
NM_001385.3(DPYS):c.166_169del	rs539754034
NM_001385.3(DPYS):c.*408A>G	rs555961371
NM_001385.3(DPYS):c.-93A>T	rs1814445185
NM_001385.3(DPYS):c.1506del (p.Arg503fs)	rs79080341
NM_001385.3(DPYS):c.169A>G (p.Lys57Glu)	rs1814421258
NM_001385.3(DPYS):c.489C>T (p.Ala163=)	rs1442791817
NM_001385.3(DPYS):c.856A>T (p.Asn286Tyr)	rs886062588

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.