ClinVar Miner

List of variants studied for dihydropyrimidine dehydrogenase deficiency by Counsyl

Included ClinVar conditions (1):
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Total variants: 79
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HGVS dbSNP gnomAD frequency
NM_000110.4(DPYD):c.557A>G (p.Tyr186Cys) rs115232898 0.00622
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.2766+19A>G rs375268978 0.00056
NM_000110.4(DPYD):c.1524+16C>A rs199469537 0.00048
NM_000110.4(DPYD):c.1679T>G (p.Ile560Ser) rs55886062 0.00040
NM_000110.4(DPYD):c.2303C>A (p.Thr768Lys) rs56005131 0.00011
NM_000110.4(DPYD):c.1775G>A (p.Arg592Gln) rs138616379 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.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.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.1024G>A (p.Asp342Asn) rs183385770 0.00001
NM_000110.4(DPYD):c.127_134del (p.Lys42_Arg43insTer) rs1207177925 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.1863G>A (p.Trp621Ter) rs1057516388 0.00001
NM_000110.4(DPYD):c.2276G>A (p.Arg759Gln) rs267598786 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
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.1178del (p.Pro393fs) rs1553197926
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.1340-2A>G rs1057516713
NM_000110.4(DPYD):c.1379dup (p.Leu461fs) rs779948148
NM_000110.4(DPYD):c.150+2T>A rs1057516405
NM_000110.4(DPYD):c.1518del (p.Lys505_Tyr506insTer) rs1057516615
NM_000110.4(DPYD):c.1524+1G>A rs1057517126
NM_000110.4(DPYD):c.1671del (p.Ser558fs) rs1057517018
NM_000110.4(DPYD):c.1727del (p.Phe576fs) rs764584080
NM_000110.4(DPYD):c.1831G>T (p.Glu611Ter) rs1057516671
NM_000110.4(DPYD):c.1970del (p.Ser657fs) rs1057516710
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.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.2286_2287insA (p.Gly763fs) rs1057516828
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.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.2680A>T (p.Lys894Ter) rs1057516873
NM_000110.4(DPYD):c.2722A>T (p.Lys908Ter) rs1553212596
NM_000110.4(DPYD):c.2748del (p.Arg916fs) rs1057517230
NM_000110.4(DPYD):c.2754del (p.Pro919fs) rs1057516894
NM_000110.4(DPYD):c.2822T>C (p.Val941Ala) rs748639205
NM_000110.4(DPYD):c.2908-1G>A rs1553209268
NM_000110.4(DPYD):c.3031dup (p.Tyr1011fs) rs1459699844
NM_000110.4(DPYD):c.322-1G>C rs1057516356
NM_000110.4(DPYD):c.45C>A (p.Ile15=) rs267598790
NM_000110.4(DPYD):c.523del (p.Ser175fs) rs1057516997
NM_000110.4(DPYD):c.762+2T>C rs1057517065
NM_000110.4(DPYD):c.851-1G>C rs1057516696
NM_000110.4(DPYD):c.910del (p.Tyr304fs) rs1057516711

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