ClinVar Miner

List of variants reported as likely pathogenic for dihydropyrimidine dehydrogenase deficiency by Baylor Genetics

Included ClinVar conditions (1):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 90
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HGVS dbSNP gnomAD frequency
NM_000110.4(DPYD):c.1679T>G (p.Ile560Ser) rs55886062 0.00040
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.257C>T (p.Pro86Leu) rs568132506 0.00004
NM_000110.4(DPYD):c.703C>T (p.Arg235Trp) rs1801266 0.00004
NM_000110.4(DPYD):c.127_134del (p.Lys42_Arg43insTer) rs1207177925 0.00001
NM_000110.4(DPYD):c.2767-1G>A rs377221676 0.00001
NM_000110.4(DPYD):c.632A>G (p.Tyr211Cys) rs72549307 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.1035dup (p.Asp346Ter)
NM_000110.4(DPYD):c.1155_1156del (p.Cys385_Glu386delinsTer) rs769925158
NM_000110.4(DPYD):c.1178del (p.Pro393fs) rs1553197926
NM_000110.4(DPYD):c.119_120delinsC (p.His40fs)
NM_000110.4(DPYD):c.1243G>T (p.Glu415Ter) rs755031341
NM_000110.4(DPYD):c.1302del (p.Ile435fs)
NM_000110.4(DPYD):c.1311del (p.Phe438fs) rs1057517189
NM_000110.4(DPYD):c.1316del (p.Gly439fs) rs1057516761
NM_000110.4(DPYD):c.1340-1G>A
NM_000110.4(DPYD):c.1340-2A>C
NM_000110.4(DPYD):c.1353_1360dup (p.Ile454fs)
NM_000110.4(DPYD):c.1375_1388del (p.Trp459fs)
NM_000110.4(DPYD):c.1379dup (p.Leu461fs) rs779948148
NM_000110.4(DPYD):c.1386del (p.Glu463fs)
NM_000110.4(DPYD):c.1408C>T (p.Gln470Ter)
NM_000110.4(DPYD):c.1492C>T (p.Gln498Ter)
NM_000110.4(DPYD):c.1502G>A (p.Trp501Ter)
NM_000110.4(DPYD):c.1525-1G>C
NM_000110.4(DPYD):c.1525-2A>G
NM_000110.4(DPYD):c.1568_1574delinsAC (p.Leu523fs)
NM_000110.4(DPYD):c.1575C>G (p.Tyr525Ter)
NM_000110.4(DPYD):c.1600_1610del (p.Ser534fs)
NM_000110.4(DPYD):c.1703G>A (p.Trp568Ter)
NM_000110.4(DPYD):c.1714dup (p.Leu572fs)
NM_000110.4(DPYD):c.1764del (p.Arg589fs) rs1346124437
NM_000110.4(DPYD):c.1780del (p.Thr594fs)
NM_000110.4(DPYD):c.1896del (p.Pro633fs)
NM_000110.4(DPYD):c.1905+1G>C rs3918290
NM_000110.4(DPYD):c.1905+2dup
NM_000110.4(DPYD):c.1935C>A (p.Tyr645Ter)
NM_000110.4(DPYD):c.1977_1983del rs1440380546
NM_000110.4(DPYD):c.2043_2058del (p.Leu682fs) rs773499329
NM_000110.4(DPYD):c.2059-1G>T
NM_000110.4(DPYD):c.2059-2A>G
NM_000110.4(DPYD):c.205G>T (p.Glu69Ter)
NM_000110.4(DPYD):c.2065G>T (p.Glu689Ter)
NM_000110.4(DPYD):c.2091G>A (p.Trp697Ter)
NM_000110.4(DPYD):c.213_220delinsCAAT (p.Ala72fs)
NM_000110.4(DPYD):c.2145del (p.Asp716fs)
NM_000110.4(DPYD):c.2146del (p.Asp716fs)
NM_000110.4(DPYD):c.2209del (p.Thr737fs)
NM_000110.4(DPYD):c.2299+1G>A
NM_000110.4(DPYD):c.2338_2339del (p.Ser780fs)
NM_000110.4(DPYD):c.2440C>T (p.Gln814Ter)
NM_000110.4(DPYD):c.2442+1G>C
NM_000110.4(DPYD):c.2490C>A (p.Tyr830Ter)
NM_000110.4(DPYD):c.2548del (p.Asp850fs)
NM_000110.4(DPYD):c.2554C>T (p.Gln852Ter) rs1057517271
NM_000110.4(DPYD):c.2622+1G>A rs1057517095
NM_000110.4(DPYD):c.2653C>T (p.Gln885Ter)
NM_000110.4(DPYD):c.2674G>T (p.Glu892Ter)
NM_000110.4(DPYD):c.2732_2733del (p.Cys911fs)
NM_000110.4(DPYD):c.2746del (p.Arg916fs)
NM_000110.4(DPYD):c.2766+1G>A
NM_000110.4(DPYD):c.2788C>T (p.Gln930Ter)
NM_000110.4(DPYD):c.2832dup (p.Val945fs)
NM_000110.4(DPYD):c.2836del (p.Ala946fs)
NM_000110.4(DPYD):c.2907+1G>C
NM_000110.4(DPYD):c.351_352del (p.Phe117_Ser118insTer)
NM_000110.4(DPYD):c.40-6_42del
NM_000110.4(DPYD):c.441_444dup (p.Pro149fs)
NM_000110.4(DPYD):c.484-1G>A
NM_000110.4(DPYD):c.484-2A>G
NM_000110.4(DPYD):c.544dup (p.Met182fs)
NM_000110.4(DPYD):c.574_575del (p.Leu192fs)
NM_000110.4(DPYD):c.601A>C (p.Ser201Arg)
NM_000110.4(DPYD):c.617del (p.Leu206fs)
NM_000110.4(DPYD):c.622C>T (p.Arg208Ter)
NM_000110.4(DPYD):c.680+1G>T
NM_000110.4(DPYD):c.697C>T (p.Gln233Ter)
NM_000110.4(DPYD):c.763-1G>A
NM_000110.4(DPYD):c.771C>A (p.Cys257Ter)
NM_000110.4(DPYD):c.895C>T (p.Gln299Ter) rs2102259303
NM_000110.4(DPYD):c.958+2T>C
NM_000110.4(DPYD):c.959-2A>G
NM_000110.4(DPYD):c.95C>A (p.Ser32Ter)
NM_000110.4(DPYD):c.966C>A (p.Cys322Ter)
NM_000110.4(DPYD):c.993dup (p.Arg332fs)

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