ClinVar Miner

List of variants studied for dihydropyrimidine dehydrogenase deficiency by Women's Health and Genetics/Laboratory Corporation of America, LabCorp

Included ClinVar conditions (1):
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Total variants: 32
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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.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.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.208C>T (p.Arg70Ter) rs141597515 0.00003
NM_000110.4(DPYD):c.1156G>T (p.Glu386Ter) rs78060119 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.3G>A (p.Met1Ile) rs768020954 0.00001
NM_000110.4(DPYD):c.661G>T (p.Glu221Ter) rs146170505 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.1109_1110del (p.Ile370fs) rs749571474
NM_000110.4(DPYD):c.1155_1156del (p.Cys385_Glu386delinsTer) rs769925158
NM_000110.4(DPYD):c.1764del (p.Arg589fs) rs1346124437
NM_000110.4(DPYD):c.1905+1G>C rs3918290
NM_000110.4(DPYD):c.1977_1983del rs1440380546
NM_000110.4(DPYD):c.1A>C (p.Met1Leu)
NM_000110.4(DPYD):c.2043_2058del (p.Leu682fs) rs773499329
NM_000110.4(DPYD):c.205G>T (p.Glu69Ter)
NM_000110.4(DPYD):c.233+1G>T rs1553247675
NM_000110.4(DPYD):c.2746del (p.Arg916fs)
NM_000110.4(DPYD):c.2843T>C (p.Ile948Thr)
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.464T>A (p.Leu155Ter) rs2101026231
NM_000110.4(DPYD):c.658C>T (p.Gln220Ter) rs1220608789

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