ClinVar Miner

List of variants in gene DPYS studied for dihydropyrimidinuria

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Total variants: 65
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HGVS dbSNP gnomAD frequency
NM_001385.3(DPYS):c.-1T>C rs2959023 0.61425
NM_001385.3(DPYS):c.216C>T (p.Phe72=) rs2298840 0.20920
NM_001385.3(DPYS):c.15G>A (p.Ser5=) rs182332679 0.03516
NM_001385.3(DPYS):c.672A>G (p.Ala224=) rs7825427 0.02132
NM_001385.3(DPYS):c.541C>T (p.Arg181Trp) rs36027551 0.01325
NM_001385.3(DPYS):c.19C>G (p.Leu7Val) rs57732538 0.01314
NM_001385.3(DPYS):c.1062T>C (p.Asp354=) rs35013010 0.01112
NM_001385.3(DPYS):c.1350C>T (p.Ala450=) rs75490773 0.00805
NM_001385.3(DPYS):c.1029C>G (p.Thr343=) rs117104587 0.00736
NM_001385.3(DPYS):c.*148C>T rs142452664 0.00494
NM_001385.3(DPYS):c.1092+9C>T rs138453168 0.00444
NM_001385.3(DPYS):c.765T>C (p.Ala255=) rs35371065 0.00426
NM_001385.3(DPYS):c.-104T>C rs541934140 0.00394
NM_001385.3(DPYS):c.528C>T (p.Tyr176=) rs143825702 0.00229
NM_001385.3(DPYS):c.264+5C>T rs672601293 0.00116
NM_001385.3(DPYS):c.*205G>A rs146388435 0.00049
NM_001385.3(DPYS):c.603+5G>A rs377073619 0.00045
NM_001385.3(DPYS):c.17G>A (p.Arg6Gln) rs199618701 0.00034
NM_001385.3(DPYS):c.*345A>T rs758496769 0.00028
NM_001385.3(DPYS):c.1027A>G (p.Thr343Ala) rs201457190 0.00021
NM_001385.3(DPYS):c.1469G>A (p.Arg490His) rs189448963 0.00021
NM_001385.3(DPYS):c.*65T>C rs151260693 0.00019
NM_001385.3(DPYS):c.1137C>A (p.Ser379Arg) rs201258823 0.00016
NM_001385.3(DPYS):c.1423C>T (p.Arg475Ter) rs61758444 0.00011
NM_001385.3(DPYS):c.177C>G (p.Val59=) rs568135080 0.00011
NM_001385.3(DPYS):c.1468C>T (p.Arg490Cys) rs142574766 0.00010
NM_001385.3(DPYS):c.*14G>A rs372257678 0.00007
NM_001385.3(DPYS):c.342C>T (p.Phe114=) rs538642538 0.00006
NM_001385.3(DPYS):c.381C>T (p.Cys127=) rs151111879 0.00006
NM_001385.3(DPYS):c.*200T>C rs577662244 0.00005
NM_001385.3(DPYS):c.131G>T (p.Gly44Val) rs367711099 0.00005
NM_001385.3(DPYS):c.817A>G (p.Ile273Val) rs201924473 0.00005
NM_001385.3(DPYS):c.1078T>C (p.Trp360Arg) rs121964924 0.00004
NM_001385.3(DPYS):c.1393C>T (p.Arg465Ter) rs201280871 0.00004
NM_001385.3(DPYS):c.1063C>T (p.Arg355Trp) rs559507379 0.00003
NM_001385.3(DPYS):c.529G>A (p.Glu177Lys) rs765884757 0.00003
NM_001385.3(DPYS):c.1001A>G (p.Gln334Arg) rs121964923 0.00002
NM_001385.3(DPYS):c.111C>T (p.His37=) rs370264718 0.00002
NM_001385.3(DPYS):c.*70A>T rs781457040 0.00001
NM_001385.3(DPYS):c.1433A>C (p.Gln478Pro) rs765274405 0.00001
NM_001385.3(DPYS):c.242A>G (p.Asp81Gly) rs951179754 0.00001
NM_001385.3(DPYS):c.264+10C>T rs1013557835 0.00001
NM_001385.3(DPYS):c.461G>C (p.Gly154Ala) rs781328295 0.00001
NM_001385.3(DPYS):c.568C>T (p.Gln190Ter) rs771160155 0.00001
NM_001385.3(DPYS):c.750G>A (p.Met250Ile) rs751371011 0.00001
NM_001385.3(DPYS):c.*166_*169del rs539754034
NM_001385.3(DPYS):c.*344T>A rs73699419
NM_001385.3(DPYS):c.*351dup rs143004875
NM_001385.3(DPYS):c.*408A>G rs555961371
NM_001385.3(DPYS):c.-93A>T rs1814445185
NM_001385.3(DPYS):c.1064G>A (p.Arg355Gln)
NM_001385.3(DPYS):c.1092+5del
NM_001385.3(DPYS):c.1235G>T (p.Arg412Met) rs267606774
NM_001385.3(DPYS):c.1303G>A (p.Gly435Arg) rs267606773
NM_001385.3(DPYS):c.1506del (p.Arg503fs) rs79080341
NM_001385.3(DPYS):c.169A>G (p.Lys57Glu) rs1814421258
NM_001385.3(DPYS):c.175G>T (p.Val59Phe) rs1321466782
NM_001385.3(DPYS):c.209T>C (p.Met70Thr)
NM_001385.3(DPYS):c.253C>T (p.Gln85Ter)
NM_001385.3(DPYS):c.489C>T (p.Ala163=) rs1442791817
NM_001385.3(DPYS):c.502T>C (p.Tyr168His)
NM_001385.3(DPYS):c.793+10G>T rs200495434
NM_001385.3(DPYS):c.856A>T (p.Asn286Tyr) rs886062588
NM_001385.3(DPYS):c.905G>A (p.Arg302Gln) rs200913682
NM_001385.3(DPYS):c.983G>T (p.Cys328Phe)

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