ClinVar Miner

List of variants in gene DPYD reported as pathogenic for Dihydropyrimidine dehydrogenase deficiency

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Total variants: 24
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HGVS dbSNP gnomAD frequency
NM_000110.4(DPYD):c.85T>C (p.Cys29Arg) rs1801265 0.27966
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.1681C>T (p.Arg561Ter) rs1057516968 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.2657G>A (p.Arg886His) rs1801267 0.00003
NM_000110.4(DPYD):c.1156G>T (p.Glu386Ter) rs78060119 0.00001
NM_000110.4(DPYD):c.61C>T (p.Arg21Ter) rs72549310 0.00001
NM_000110.4(DPYD):c.661G>T (p.Glu221Ter) rs146170505 0.00001
NM_000110.4(DPYD):c.1109_1110del (p.Ile370fs) rs749571474
NM_000110.4(DPYD):c.151-2A>C rs1669337684
NM_000110.4(DPYD):c.1898del (p.Pro633fs) rs72549303
NM_000110.4(DPYD):c.2043_2058del (p.Leu682fs) rs773499329
NM_000110.4(DPYD):c.2650G>T (p.Glu884Ter)
NM_000110.4(DPYD):c.299_302del (p.Phe100fs) rs72549309
NM_000110.4(DPYD):c.321+1G>A
NM_000110.4(DPYD):c.464T>A (p.Leu155Ter) rs2101026231
NM_000110.4(DPYD):c.812del (p.Thr270_Leu271insTer)

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