ClinVar Miner

List of variants reported as likely pathogenic for Dihydropyrimidine dehydrogenase deficiency

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Total variants: 54
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HGVS dbSNP
NM_000110.3(DPYD):c.1041_1042delTG (p.Ala348Asnfs) rs1553201476
NM_000110.3(DPYD):c.1109_1110delTA (p.Ile370Lysfs) rs749571474
NM_000110.3(DPYD):c.1121delC (p.Pro374Leufs) rs1553201443
NM_000110.3(DPYD):c.1178delC (p.Pro393Hisfs) rs1553197926
NM_000110.3(DPYD):c.1311delC (p.Phe438Leufs) rs1057517189
NM_000110.3(DPYD):c.1316delG (p.Gly439Valfs) rs1057516761
NM_000110.3(DPYD):c.1339+1G>T rs1057516357
NM_000110.3(DPYD):c.1340-2A>G rs1057516713
NM_000110.3(DPYD):c.1379dupG (p.Leu461Serfs) rs779948148
NM_000110.3(DPYD):c.150+2T>A rs1057516405
NM_000110.3(DPYD):c.1518delC (p.Tyr506Terfs) rs1057516615
NM_000110.3(DPYD):c.1524+1G>A rs1057517126
NM_000110.3(DPYD):c.1671delA (p.Ser558Glnfs) rs1057517018
NM_000110.3(DPYD):c.1679T>G (p.Ile560Ser) rs55886062
NM_000110.3(DPYD):c.1681C>T (p.Arg561Ter) rs1057516968
NM_000110.3(DPYD):c.1727delT (p.Phe576Serfs) rs764584080
NM_000110.3(DPYD):c.1831G>T (p.Glu611Ter) rs1057516671
NM_000110.3(DPYD):c.1863G>A (p.Trp621Ter) rs1057516388
NM_000110.3(DPYD):c.1970delC (p.Ser657Leufs) rs1057516710
NM_000110.3(DPYD):c.2003delA (p.Asn668Ilefs) rs1057517055
NM_000110.3(DPYD):c.2039dupT (p.Met680Ilefs) rs1057517396
NM_000110.3(DPYD):c.2043_2058del16 (p.Leu682Ilefs) rs773499329
NM_000110.3(DPYD):c.2058+1G>C rs769167857
NM_000110.3(DPYD):c.208C>T (p.Arg70Ter) rs141597515
NM_000110.3(DPYD):c.2177_2179+1delAAGG rs1553251903
NM_000110.3(DPYD):c.2178delA (p.Gly727Valfs) rs1553251907
NM_000110.3(DPYD):c.220C>T (p.Arg74Ter) rs189768576
NM_000110.3(DPYD):c.2275C>T (p.Arg759Ter) rs759372918
NM_000110.3(DPYD):c.2286_2287insA (p.Gly763Argfs) rs1057516828
NM_000110.3(DPYD):c.232A>T (p.Arg78Ter) rs776692894
NM_000110.3(DPYD):c.233+1G>T rs1553247675
NM_000110.3(DPYD):c.2335_2338delACCTinsGC (p.Thr779Alafs) rs1057516510
NM_000110.3(DPYD):c.2554C>T (p.Gln852Ter) rs1057517271
NM_000110.3(DPYD):c.2579delA (p.Gln860Argfs) rs746991079
NM_000110.3(DPYD):c.2589dupA (p.Pro864Thrfs) rs1057517327
NM_000110.3(DPYD):c.2622+1G>A rs1057517095
NM_000110.3(DPYD):c.2680A>T (p.Lys894Ter) rs1057516873
NM_000110.3(DPYD):c.2722A>T (p.Lys908Ter) rs1553212596
NM_000110.3(DPYD):c.2748delG (p.Arg916Serfs) rs1057517230
NM_000110.3(DPYD):c.2754delT (p.Pro919Leufs) rs1057516894
NM_000110.3(DPYD):c.2846A>T (p.Asp949Val) rs67376798
NM_000110.3(DPYD):c.322-1G>C rs1057516356
NM_000110.3(DPYD):c.3G>A (p.Met1Ile) rs768020954
NM_000110.3(DPYD):c.483+1G>T rs1057516763
NM_000110.3(DPYD):c.523delT (p.Ser175Argfs) rs1057516997
NM_000110.3(DPYD):c.61C>T (p.Arg21Ter) rs72549310
NM_000110.3(DPYD):c.658C>T (p.Gln220Ter)
NM_000110.3(DPYD):c.661G>T (p.Glu221Ter) rs146170505
NM_000110.3(DPYD):c.680+1G>A rs867460475
NM_000110.3(DPYD):c.762+2T>C rs1057517065
NM_000110.3(DPYD):c.763-2A>G rs1300669537
NM_000110.3(DPYD):c.851-1G>C rs1057516696
NM_000110.3(DPYD):c.910delT (p.Tyr304Ilefs) rs1057516711
NM_001160301.1(DPYD):c.127_134delAGAAATCC (p.Arg43Terfs) rs1207177925

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