ClinVar Miner

List of variants studied for dihydropyrimidine dehydrogenase deficiency by Genome-Nilou Lab

Included ClinVar conditions (1):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 55
Download table as spreadsheet
HGVS dbSNP gnomAD frequency
NM_000110.4(DPYD):c.1627A>G (p.Ile543Val) rs1801159 0.18679
NM_000110.4(DPYD):c.*274T>C rs56160474 0.14536
NM_000110.4(DPYD):c.1129-15T>C rs56293913 0.09765
NM_000110.4(DPYD):c.496A>G (p.Met166Val) rs2297595 0.08071
NM_000110.4(DPYD):c.681-8C>T rs74774246 0.01331
NM_000110.4(DPYD):c.1371C>T (p.Asn457=) rs57918000 0.00785
NM_000110.4(DPYD):c.1494A>G (p.Gln498=) rs116364703 0.00519
NM_000110.4(DPYD):c.1525-11G>A rs55699321 0.00166
NM_000110.4(DPYD):c.2180-3T>C rs74104343 0.00158
NM_000110.4(DPYD):c.868A>G (p.Lys290Glu) rs146356975 0.00078
NM_000110.4(DPYD):c.1701A>T (p.Gly567=) rs148372305 0.00058
NM_000110.4(DPYD):c.1524+16C>A rs199469537 0.00048
NM_000110.4(DPYD):c.2180-11G>A rs377136032 0.00032
NM_000110.4(DPYD):c.1358C>G (p.Pro453Arg) rs144395748 0.00031
NM_000110.4(DPYD):c.274C>G (p.Pro92Ala) rs143986398 0.00013
NM_000110.4(DPYD):c.1229G>A (p.Arg410Gln) rs199646142 0.00012
NM_000110.4(DPYD):c.345G>C (p.Met115Ile) rs377169736 0.00009
NM_000110.4(DPYD):c.1990G>T (p.Ala664Ser) rs138545885 0.00006
NM_000110.4(DPYD):c.2071G>T (p.Val691Leu) rs202212118 0.00006
NM_000110.4(DPYD):c.2579del (p.Gln860fs) rs746991079 0.00006
NM_000110.4(DPYD):c.2872A>G (p.Lys958Glu) rs141044036 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.1796T>C (p.Met599Thr) rs147601618 0.00003
NM_000110.4(DPYD):c.208C>T (p.Arg70Ter) rs141597515 0.00003
NM_000110.4(DPYD):c.2657G>A (p.Arg886His) rs1801267 0.00003
NM_000110.4(DPYD):c.1108A>G (p.Ile370Val) rs72549305 0.00002
NM_000110.4(DPYD):c.2378C>T (p.Thr793Ile) rs547099198 0.00002
NM_000110.4(DPYD):c.545T>A (p.Met182Lys) rs779728902 0.00002
NM_000110.4(DPYD):c.1048T>C (p.Ser350Pro) rs771885007 0.00001
NM_000110.4(DPYD):c.1139C>G (p.Ala380Gly) rs1354585423 0.00001
NM_000110.4(DPYD):c.127_134del (p.Lys42_Arg43insTer) rs1207177925 0.00001
NM_000110.4(DPYD):c.1337A>C (p.Lys446Thr) rs200709381 0.00001
NM_000110.4(DPYD):c.1538C>T (p.Ala513Val) rs760663364 0.00001
NM_000110.4(DPYD):c.1863G>A (p.Trp621Ter) rs1057516388 0.00001
NM_000110.4(DPYD):c.2528T>C (p.Ile843Thr) rs571114616 0.00001
NM_000110.4(DPYD):c.2758A>C (p.Thr920Pro) rs886046575 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.632A>G (p.Tyr211Cys) rs72549307 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.1310C>T (p.Ala437Val) rs1290815802
NM_000110.4(DPYD):c.1349C>T (p.Ala450Val) rs72975710
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.2075G>A (p.Arg692Gln)
NM_000110.4(DPYD):c.233+1G>T rs1553247675
NM_000110.4(DPYD):c.2622+1G>A rs1057517095
NM_000110.4(DPYD):c.299_302del (p.Phe100fs) rs72549309
NM_000110.4(DPYD):c.3067C>T (p.Pro1023Ser) rs114096998
NM_000110.4(DPYD):c.623G>T (p.Arg208Leu) rs376073289

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.