ClinVar Miner

List of variants reported as likely pathogenic for dihydropyrimidine dehydrogenase deficiency

Included ClinVar conditions (1):
Minimum submission review status: Collection method:
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ClinVar version:
Total variants: 145
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HGVS dbSNP gnomAD frequency
NM_000110.4(DPYD):c.1905+1G>A rs3918290 0.00474
NM_000110.4(DPYD):c.2846A>T (p.Asp949Val) rs67376798 0.00334
NM_000110.4(DPYD):c.1679T>G (p.Ile560Ser) rs55886062 0.00040
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.1475C>T (p.Ser492Leu) rs72549304 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.703C>T (p.Arg235Trp) rs1801266 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.1974+1G>A rs772254904 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.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.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.1035dup (p.Asp346Ter)
NM_000110.4(DPYD):c.1041_1042del (p.Ala348fs) rs1553201476
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.1243G>T (p.Glu415Ter) rs755031341
NM_000110.4(DPYD):c.1302del (p.Ile435fs)
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.1340-1G>A
NM_000110.4(DPYD):c.1340-2A>C
NM_000110.4(DPYD):c.1340-2A>G rs1057516713
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.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.1568_1574delinsAC (p.Leu523fs)
NM_000110.4(DPYD):c.1575C>G (p.Tyr525Ter)
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.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.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.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.2177_2179+1del rs1553251903
NM_000110.4(DPYD):c.2178del (p.Gly727fs) rs1553251907
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.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.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.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.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.2983G>T (p.Val995Phe) rs1801268
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.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.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.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.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.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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