ClinVar Miner

List of variants studied for dihydropyrimidine dehydrogenase deficiency

Included ClinVar conditions (1):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 282
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HGVS dbSNP gnomAD frequency
NM_000110.4(DPYD):c.*768G>A rs291592 0.43806
NM_000110.4(DPYD):c.*780C>T rs291593 0.28025
NM_000110.4(DPYD):c.85T>C (p.Cys29Arg) rs1801265 0.27966
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.*573G>A rs1042482 0.05769
NM_000110.4(DPYD):c.1896T>C (p.Phe632=) rs17376848 0.04278
NM_000110.4(DPYD):c.2194G>A (p.Val732Ile) rs1801160 0.03794
NM_000110.4(DPYD):c.*900T>C rs17470762 0.02724
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.681-8C>T rs74774246 0.01331
NM_000110.4(DPYD):c.1236G>A (p.Glu412=) rs56038477 0.01297
NM_000110.4(DPYD):c.*1062A>G rs41285690 0.01134
NM_000110.4(DPYD):c.1371C>T (p.Asn457=) rs57918000 0.00785
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.1494A>G (p.Gln498=) rs116364703 0.00519
NM_000110.4(DPYD):c.775A>G (p.Lys259Glu) rs45589337 0.00513
NM_000110.4(DPYD):c.1905+1G>A rs3918290 0.00474
NM_000110.4(DPYD):c.*432T>A rs188501488 0.00391
NM_000110.4(DPYD):c.2846A>T (p.Asp949Val) rs67376798 0.00334
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.1525-11G>A rs55699321 0.00166
NM_000110.4(DPYD):c.2180-3T>C rs74104343 0.00158
NM_000110.4(DPYD):c.2485G>A (p.Asp829Asn) rs199777072 0.00130
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.2766+19A>G rs375268978 0.00056
NM_000110.4(DPYD):c.451A>G (p.Asn151Asp) rs200562975 0.00049
NM_000110.4(DPYD):c.1524+16C>A rs199469537 0.00048
NM_000110.4(DPYD):c.*635T>A rs535104911 0.00044
NM_000110.4(DPYD):c.1679T>G (p.Ile560Ser) rs55886062 0.00040
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.1358C>G (p.Pro453Arg) rs144395748 0.00031
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.274C>G (p.Pro92Ala) rs143986398 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.345G>C (p.Met115Ile) rs377169736 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.484-5C>T rs767955683 0.00007
NM_000110.4(DPYD):c.1774C>T (p.Arg592Trp) rs59086055 0.00006
NM_000110.4(DPYD):c.1775G>A (p.Arg592Gln) rs138616379 0.00006
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.220C>T (p.Arg74Ter) rs189768576 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.*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.1681C>T (p.Arg561Ter) rs1057516968 0.00004
NM_000110.4(DPYD):c.187A>G (p.Lys63Glu) rs367619008 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.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_000110.4(DPYD):c.208C>T (p.Arg70Ter) rs141597515 0.00003
NM_000110.4(DPYD):c.2657G>A (p.Arg886His) rs1801267 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.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.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.1024G>A (p.Asp342Asn) rs183385770 0.00001
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.1156G>T (p.Glu386Ter) rs78060119 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.1525-9A>G rs56056384 0.00001
NM_000110.4(DPYD):c.1538C>T (p.Ala513Val) rs760663364 0.00001
NM_000110.4(DPYD):c.1555C>T (p.Pro519Ser) rs672601282 0.00001
NM_000110.4(DPYD):c.1733T>C (p.Leu578Pro) rs778754188 0.00001
NM_000110.4(DPYD):c.1863G>A (p.Trp621Ter) rs1057516388 0.00001
NM_000110.4(DPYD):c.1974+1G>A rs772254904 0.00001
NM_000110.4(DPYD):c.2186C>T (p.Ala729Val) rs146529561 0.00001
NM_000110.4(DPYD):c.2276G>A (p.Arg759Gln) rs267598786 0.00001
NM_000110.4(DPYD):c.2279C>T (p.Thr760Ile) rs112766203 0.00001
NM_000110.4(DPYD):c.2528T>C (p.Ile843Thr) rs571114616 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.2767-1G>A rs377221676 0.00001
NM_000110.4(DPYD):c.3G>A (p.Met1Ile) rs768020954 0.00001
NM_000110.4(DPYD):c.483+1G>T rs1057516763 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.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.680+1G>A rs867460475 0.00001
NM_000110.4(DPYD):c.704G>A (p.Arg235Gln) rs755416212 0.00001
NM_000110.4(DPYD):c.762+5A>T rs1033092437 0.00001
NM_000110.4(DPYD):c.763-2A>G rs1300669537 0.00001
NC_000001.10:g.(97658805_97700407)_(97700551_97770814)del
NC_000001.10:g.(97915780_97981281)_(98015301_98039315)dup
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.1035dup (p.Asp346Ter)
NM_000110.4(DPYD):c.1041_1042del (p.Ala348fs) rs1553201476
NM_000110.4(DPYD):c.1070G>A (p.Arg357His) rs377143350
NM_000110.4(DPYD):c.1109_1110del (p.Ile370fs) rs749571474
NM_000110.4(DPYD):c.1121del (p.Pro374fs) rs1553201443
NM_000110.4(DPYD):c.1128+1G>C
NM_000110.4(DPYD):c.1155_1156del (p.Cys385_Glu386delinsTer) rs769925158
NM_000110.4(DPYD):c.1178del (p.Pro393fs) rs1553197926
NM_000110.4(DPYD):c.119_120delinsC (p.His40fs)
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.1243G>T (p.Glu415Ter) rs755031341
NM_000110.4(DPYD):c.1302del (p.Ile435fs)
NM_000110.4(DPYD):c.1310C>T (p.Ala437Val) rs1290815802
NM_000110.4(DPYD):c.1311del (p.Phe438fs) rs1057517189
NM_000110.4(DPYD):c.1316del (p.Gly439fs) rs1057516761
NM_000110.4(DPYD):c.1339+1G>T rs1057516357
NM_000110.4(DPYD):c.1340-14A>C rs886046578
NM_000110.4(DPYD):c.1340-1G>A
NM_000110.4(DPYD):c.1340-2A>C
NM_000110.4(DPYD):c.1340-2A>G rs1057516713
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.1353_1360dup (p.Ile454fs)
NM_000110.4(DPYD):c.1375_1388del (p.Trp459fs)
NM_000110.4(DPYD):c.1379dup (p.Leu461fs) rs779948148
NM_000110.4(DPYD):c.1386del (p.Glu463fs)
NM_000110.4(DPYD):c.1408C>T (p.Gln470Ter)
NM_000110.4(DPYD):c.1492C>T (p.Gln498Ter)
NM_000110.4(DPYD):c.150+2T>A rs1057516405
NM_000110.4(DPYD):c.1502G>A (p.Trp501Ter)
NM_000110.4(DPYD):c.1503G>A (p.Trp501Ter) rs1557790713
NM_000110.4(DPYD):c.151-2A>C rs1669337684
NM_000110.4(DPYD):c.1518del (p.Lys505_Tyr506insTer) rs1057516615
NM_000110.4(DPYD):c.1524+1G>A rs1057517126
NM_000110.4(DPYD):c.1525-1G>C
NM_000110.4(DPYD):c.1525-2A>G
NM_000110.4(DPYD):c.1538C>G (p.Ala513Gly) rs760663364
NM_000110.4(DPYD):c.1568_1574delinsAC (p.Leu523fs)
NM_000110.4(DPYD):c.1575C>G (p.Tyr525Ter)
NM_000110.4(DPYD):c.1580C>T (p.Pro527Leu) rs886046577
NM_000110.4(DPYD):c.1600_1610del (p.Ser534fs)
NM_000110.4(DPYD):c.1671del (p.Ser558fs) rs1057517018
NM_000110.4(DPYD):c.1703G>A (p.Trp568Ter)
NM_000110.4(DPYD):c.1714dup (p.Leu572fs)
NM_000110.4(DPYD):c.1727del (p.Phe576fs) rs764584080
NM_000110.4(DPYD):c.1757T>C (p.Val586Ala)
NM_000110.4(DPYD):c.1764del (p.Arg589fs) rs1346124437
NM_000110.4(DPYD):c.1780del (p.Thr594fs)
NM_000110.4(DPYD):c.1831G>T (p.Glu611Ter) rs1057516671
NM_000110.4(DPYD):c.1896del (p.Pro633fs)
NM_000110.4(DPYD):c.1898del (p.Pro633fs) rs72549303
NM_000110.4(DPYD):c.1905+17A>G
NM_000110.4(DPYD):c.1905+1G>C rs3918290
NM_000110.4(DPYD):c.1905+2dup
NM_000110.4(DPYD):c.1935C>A (p.Tyr645Ter)
NM_000110.4(DPYD):c.1970del (p.Ser657fs) rs1057516710
NM_000110.4(DPYD):c.1977_1983del rs1440380546
NM_000110.4(DPYD):c.1A>C (p.Met1Leu)
NM_000110.4(DPYD):c.2003del (p.Asn668fs) rs1057517055
NM_000110.4(DPYD):c.2039dup (p.Met680fs) rs1057517396
NM_000110.4(DPYD):c.2043_2058del (p.Leu682fs) rs773499329
NM_000110.4(DPYD):c.2058+1G>C rs769167857
NM_000110.4(DPYD):c.2059-1G>T
NM_000110.4(DPYD):c.2059-2A>G
NM_000110.4(DPYD):c.205G>T (p.Glu69Ter)
NM_000110.4(DPYD):c.2065G>T (p.Glu689Ter)
NM_000110.4(DPYD):c.2075G>A (p.Arg692Gln)
NM_000110.4(DPYD):c.2084G>T (p.Cys695Phe) rs1336020354
NM_000110.4(DPYD):c.2091G>A (p.Trp697Ter)
NM_000110.4(DPYD):c.213_220delinsCAAT (p.Ala72fs)
NM_000110.4(DPYD):c.2145del (p.Asp716fs)
NM_000110.4(DPYD):c.2146del (p.Asp716fs)
NM_000110.4(DPYD):c.2168C>G (p.Ala723Gly) rs1553251908
NM_000110.4(DPYD):c.2177_2179+1del rs1553251903
NM_000110.4(DPYD):c.2178del (p.Gly727fs) rs1553251907
NM_000110.4(DPYD):c.2183G>T (p.Gly728Val)
NM_000110.4(DPYD):c.2193C>T (p.Gly731=) rs139543981
NM_000110.4(DPYD):c.2209del (p.Thr737fs)
NM_000110.4(DPYD):c.2286_2287insA (p.Gly763fs) rs1057516828
NM_000110.4(DPYD):c.2299+1G>A
NM_000110.4(DPYD):c.232A>T (p.Arg78Ter) rs776692894
NM_000110.4(DPYD):c.233+1G>T rs1553247675
NM_000110.4(DPYD):c.2335_2338delinsGC (p.Thr779fs) rs1057516510
NM_000110.4(DPYD):c.2338_2339del (p.Ser780fs)
NM_000110.4(DPYD):c.2357C>A (p.Pro786His) rs777673186
NM_000110.4(DPYD):c.2440C>T (p.Gln814Ter)
NM_000110.4(DPYD):c.2442+1G>C
NM_000110.4(DPYD):c.2490C>A (p.Tyr830Ter)
NM_000110.4(DPYD):c.2525G>T (p.Ser842Ile) rs886046576
NM_000110.4(DPYD):c.2548del (p.Asp850fs)
NM_000110.4(DPYD):c.2554C>T (p.Gln852Ter) rs1057517271
NM_000110.4(DPYD):c.2589dup (p.Pro864fs) rs1057517327
NM_000110.4(DPYD):c.2622+1G>A rs1057517095
NM_000110.4(DPYD):c.2632A>G (p.Ser878Gly) rs762911226
NM_000110.4(DPYD):c.2650G>T (p.Glu884Ter)
NM_000110.4(DPYD):c.2653C>T (p.Gln885Ter)
NM_000110.4(DPYD):c.2674G>T (p.Glu892Ter)
NM_000110.4(DPYD):c.2680A>T (p.Lys894Ter) rs1057516873
NM_000110.4(DPYD):c.2722A>T (p.Lys908Ter) rs1553212596
NM_000110.4(DPYD):c.2732_2733del (p.Cys911fs)
NM_000110.4(DPYD):c.2746del (p.Arg916fs)
NM_000110.4(DPYD):c.2748del (p.Arg916fs) rs1057517230
NM_000110.4(DPYD):c.2754del (p.Pro919fs) rs1057516894
NM_000110.4(DPYD):c.2766+1G>A
NM_000110.4(DPYD):c.2788C>T (p.Gln930Ter)
NM_000110.4(DPYD):c.2807G>A (p.Gly936Asp) rs1649223892
NM_000110.4(DPYD):c.2822T>C (p.Val941Ala) rs748639205
NM_000110.4(DPYD):c.2832dup (p.Val945fs)
NM_000110.4(DPYD):c.2836del (p.Ala946fs)
NM_000110.4(DPYD):c.2843T>C (p.Ile948Thr)
NM_000110.4(DPYD):c.2907+1G>C
NM_000110.4(DPYD):c.2908-1G>A rs1553209268
NM_000110.4(DPYD):c.2983G>T (p.Val995Phe) rs1801268
NM_000110.4(DPYD):c.299_302del (p.Phe100fs) rs72549309
NM_000110.4(DPYD):c.3031dup (p.Tyr1011fs) rs1459699844
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.321+1G>A
NM_000110.4(DPYD):c.321+2T>C
NM_000110.4(DPYD):c.322-1G>C rs1057516356
NM_000110.4(DPYD):c.328T>C (p.Tyr110His)
NM_000110.4(DPYD):c.351_352del (p.Phe117_Ser118insTer)
NM_000110.4(DPYD):c.40-6_42del
NM_000110.4(DPYD):c.441_444dup (p.Pro149fs)
NM_000110.4(DPYD):c.45C>A (p.Ile15=) rs267598790
NM_000110.4(DPYD):c.464T>A (p.Leu155Ter) rs2101026231
NM_000110.4(DPYD):c.484-1G>A
NM_000110.4(DPYD):c.484-2A>G
NM_000110.4(DPYD):c.508C>T (p.Gln170Ter)
NM_000110.4(DPYD):c.523del (p.Ser175fs) rs1057516997
NM_000110.4(DPYD):c.544dup (p.Met182fs)
NM_000110.4(DPYD):c.574_575del (p.Leu192fs)
NM_000110.4(DPYD):c.601A>C (p.Ser201Arg)
NM_000110.4(DPYD):c.617del (p.Leu206fs)
NM_000110.4(DPYD):c.622C>T (p.Arg208Ter)
NM_000110.4(DPYD):c.623G>T (p.Arg208Leu) rs376073289
NM_000110.4(DPYD):c.658C>T (p.Gln220Ter) rs1220608789
NM_000110.4(DPYD):c.680+1G>T
NM_000110.4(DPYD):c.697C>T (p.Gln233Ter)
NM_000110.4(DPYD):c.739C>T (p.Leu247=) rs376128878
NM_000110.4(DPYD):c.762+2T>C rs1057517065
NM_000110.4(DPYD):c.763-1G>A
NM_000110.4(DPYD):c.771C>A (p.Cys257Ter)
NM_000110.4(DPYD):c.812del (p.Thr270_Leu271insTer)
NM_000110.4(DPYD):c.850+13C>T rs1660302424
NM_000110.4(DPYD):c.851-1G>C rs1057516696
NM_000110.4(DPYD):c.895C>T (p.Gln299Ter) rs2102259303
NM_000110.4(DPYD):c.910del (p.Tyr304fs) rs1057516711
NM_000110.4(DPYD):c.958+2T>C
NM_000110.4(DPYD):c.959-2A>G
NM_000110.4(DPYD):c.95C>A (p.Ser32Ter)
NM_000110.4(DPYD):c.966C>A (p.Cys322Ter)
NM_000110.4(DPYD):c.993dup (p.Arg332fs)
NM_000110.4:c.850+23455_1128+8811del

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