ClinVar Miner

List of variants reported as uncertain significance for dihydropyrimidine dehydrogenase deficiency by Illumina Laboratory Services, Illumina

Included ClinVar conditions (1):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 83
Download table as spreadsheet
HGVS dbSNP gnomAD frequency
NM_000110.4(DPYD):c.1218G>A (p.Met406Ile) rs61622928 0.02183
NM_000110.4(DPYD):c.1601G>A (p.Ser534Asn) rs1801158 0.01380
NM_000110.4(DPYD):c.*1062A>G rs41285690 0.01134
NM_000110.4(DPYD):c.557A>G (p.Tyr186Cys) rs115232898 0.00622
NM_000110.3(DPYD):c.-144C>T rs554389296 0.00603
NM_000110.4(DPYD):c.775A>G (p.Lys259Glu) rs45589337 0.00513
NM_000110.4(DPYD):c.*432T>A rs188501488 0.00391
NM_000110.4(DPYD):c.*159A>G rs55938520 0.00324
NM_000110.4(DPYD):c.*783G>T rs137984871 0.00225
NM_000110.4(DPYD):c.451A>G (p.Asn151Asp) rs200562975 0.00049
NM_000110.4(DPYD):c.*635T>A rs535104911 0.00044
NM_000110.4(DPYD):c.*1046C>A rs55992536 0.00037
NM_000110.4(DPYD):c.1615G>A (p.Gly539Arg) rs142619737 0.00032
NM_000110.4(DPYD):c.2180-11G>A rs377136032 0.00032
NM_000110.4(DPYD):c.*586C>T rs886046571 0.00026
NM_000110.4(DPYD):c.1905C>T (p.Asn635=) rs3918289 0.00021
NM_000110.4(DPYD):c.*665G>A rs886046570 0.00013
NM_000110.4(DPYD):c.1229G>A (p.Arg410Gln) rs199646142 0.00012
NM_000110.4(DPYD):c.2303C>A (p.Thr768Lys) rs56005131 0.00011
NM_000110.4(DPYD):c.*852C>T rs886046569 0.00010
NM_000110.4(DPYD):c.*476G>A rs753289746 0.00009
NM_000110.4(DPYD):c.-112A>G rs868725176 0.00009
NM_000110.4(DPYD):c.2049C>G (p.Ala683=) rs183475941 0.00008
NM_000110.4(DPYD):c.*390A>G rs1407236928 0.00007
NM_000110.4(DPYD):c.1774C>T (p.Arg592Trp) rs59086055 0.00006
NM_000110.4(DPYD):c.2071G>T (p.Val691Leu) rs202212118 0.00006
NM_000110.4(DPYD):c.2872A>G (p.Lys958Glu) rs141044036 0.00006
NM_000110.4(DPYD):c.*193A>C rs886046574 0.00005
NM_000110.4(DPYD):c.*242G>A rs886046573 0.00004
NM_000110.4(DPYD):c.1475C>T (p.Ser492Leu) rs72549304 0.00004
NM_000110.4(DPYD):c.1614C>T (p.Ala538=) rs760853559 0.00004
NM_000110.4(DPYD):c.1651G>A (p.Ala551Thr) rs777425216 0.00004
NM_000110.4(DPYD):c.474T>C (p.Phe158=) rs190771411 0.00004
NM_000110.4(DPYD):c.483+5G>A rs373218392 0.00004
NM_000110.4(DPYD):c.703C>T (p.Arg235Trp) rs1801266 0.00004
NM_000110.4(DPYD):c.995G>A (p.Arg332Gln) rs747633945 0.00004
NM_000110.4(DPYD):c.1369A>G (p.Asn457Asp) rs750147471 0.00003
NM_000110.4(DPYD):c.1796T>C (p.Met599Thr) rs147601618 0.00003
NM_001160301.1(DPYD):c.-122C>A rs886046582 0.00003
NM_000110.4(DPYD):c.*673G>A rs976162155 0.00002
NM_000110.4(DPYD):c.639C>T (p.Asp213=) rs190048823 0.00002
NM_000110.4(DPYD):c.*1153A>G rs1203563572 0.00001
NM_000110.4(DPYD):c.*282A>G rs886046572 0.00001
NM_000110.4(DPYD):c.*458T>A rs1648944201 0.00001
NM_000110.4(DPYD):c.1048T>C (p.Ser350Pro) rs771885007 0.00001
NM_000110.4(DPYD):c.1337A>C (p.Lys446Thr) rs200709381 0.00001
NM_000110.4(DPYD):c.1525-9A>G rs56056384 0.00001
NM_000110.4(DPYD):c.1733T>C (p.Leu578Pro) rs778754188 0.00001
NM_000110.4(DPYD):c.2186C>T (p.Ala729Val) rs146529561 0.00001
NM_000110.4(DPYD):c.2279C>T (p.Thr760Ile) rs112766203 0.00001
NM_000110.4(DPYD):c.2634T>G (p.Ser878Arg) rs919596571 0.00001
NM_000110.4(DPYD):c.2758A>C (p.Thr920Pro) rs886046575 0.00001
NM_000110.4(DPYD):c.48G>A (p.Leu16=) rs763165014 0.00001
NM_000110.4(DPYD):c.4G>T (p.Ala2Ser) rs1232582100 0.00001
NM_000110.4(DPYD):c.762+5A>T rs1033092437 0.00001
NM_000110.4(DPYD):c.*1000A>G rs1648902933
NM_000110.4(DPYD):c.*1010T>G rs1648902342
NM_000110.4(DPYD):c.*1050A>T rs1648901054
NM_000110.4(DPYD):c.*1189G>A rs570164196
NM_000110.4(DPYD):c.*416C>A rs1648946118
NM_000110.4(DPYD):c.*503A>T rs1648935697
NM_000110.4(DPYD):c.*626G>A rs1648927388
NM_000110.4(DPYD):c.-108T>C rs886046581
NM_000110.4(DPYD):c.1027A>T (p.Thr343Ser) rs886046580
NM_000110.4(DPYD):c.1220A>G (p.Gln407Arg) rs886046579
NM_000110.4(DPYD):c.1228C>T (p.Arg410Trp) rs528430685
NM_000110.4(DPYD):c.1340-14A>C rs886046578
NM_000110.4(DPYD):c.1349C>G (p.Ala450Gly) rs72975710
NM_000110.4(DPYD):c.1349C>T (p.Ala450Val) rs72975710
NM_000110.4(DPYD):c.1503G>A (p.Trp501Ter) rs1557790713
NM_000110.4(DPYD):c.1538C>G (p.Ala513Gly) rs760663364
NM_000110.4(DPYD):c.1580C>T (p.Pro527Leu) rs886046577
NM_000110.4(DPYD):c.1764del (p.Arg589fs) rs1346124437
NM_000110.4(DPYD):c.2084G>T (p.Cys695Phe) rs1336020354
NM_000110.4(DPYD):c.2193C>T (p.Gly731=) rs139543981
NM_000110.4(DPYD):c.2525G>T (p.Ser842Ile) rs886046576
NM_000110.4(DPYD):c.2632A>G (p.Ser878Gly) rs762911226
NM_000110.4(DPYD):c.2807G>A (p.Gly936Asp) rs1649223892
NM_000110.4(DPYD):c.3067C>A (p.Pro1023Thr) rs114096998
NM_000110.4(DPYD):c.3067C>T (p.Pro1023Ser) rs114096998
NM_000110.4(DPYD):c.623G>T (p.Arg208Leu) rs376073289
NM_000110.4(DPYD):c.739C>T (p.Leu247=) rs376128878
NM_000110.4(DPYD):c.850+13C>T rs1660302424

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.