ClinVar Miner

List of variants reported as not provided by Diasio Lab, Mayo Clinic

Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 107
Download table as spreadsheet
HGVS dbSNP gnomAD frequency
NM_000110.4(DPYD):c.85= (p.Cys29=) rs1801265 0.72034
NM_001385.3(DPYS):c.424-62G>T rs7821992 0.63873
NM_000110.4(DPYD):c.1740+40A>G rs2811178 0.61570
NM_001385.3(DPYS):c.-1T>C rs2959023 0.61425
NM_000373.3(UMPS):c.-28A>G rs1139538 0.54345
NM_000373.3(UMPS):c.-110A>G rs2279198 0.54337
NM_001385.3(DPYS):c.265-58T>C rs2669429 0.45695
NM_000373.3(UMPS):c.-67T>C rs2279199 0.44281
NM_000110.4(DPYD):c.*768G>A rs291592 0.43806
NM_000110.4(DPYD):c.*780C>T rs291593 0.28025
NM_000373.4(UMPS):c.1274-52G>C rs3772807 0.25474
NM_001385.3(DPYS):c.216C>T (p.Phe72=) rs2298840 0.20920
NM_000110.4(DPYD):c.1627A>G (p.Ile543Val) rs1801159 0.18679
NM_000110.4(DPYD):c.1974+75A>G rs72728438 0.18528
NM_000373.4(UMPS):c.638G>C (p.Gly213Ala) rs1801019 0.17658
NM_000110.4(DPYD):c.1740+39C>T rs2786783 0.17597
NM_000110.4(DPYD):c.958+134T>G rs2811202 0.15180
NM_016327.3(UPB1):c.-17A>T rs2070475 0.11463
NM_000110.4(DPYD):c.763-118A>G rs3790387 0.09806
NM_000110.4(DPYD):c.1129-15T>C rs56293913 0.09765
NM_000110.4(DPYD):c.2300-39G>A rs12137711 0.09021
NM_000110.4(DPYD):c.1340-106T>A rs61789183 0.08725
NM_000110.4(DPYD):c.496A>G (p.Met166Val) rs2297595 0.08071
NM_000110.4(DPYD):c.*573G>A rs1042482 0.05769
NM_000110.4(DPYD):c.1896T>C (p.Phe632=) rs17376848 0.04278
NM_000110.4(DPYD):c.2194G>A (p.Val732Ile) rs1801160 0.03794
NM_001385.2(DPYS):c.-154C>G rs78426610 0.03517
NM_001385.3(DPYS):c.15G>A (p.Ser5=) rs182332679 0.03516
NM_016327.3(UPB1):c.105-61A>G rs2232865 0.03375
NM_000110.4(DPYD):c.*900T>C rs17470762 0.02724
NM_001385.3(DPYS):c.264+34C>G rs189294405 0.02409
NM_000110.4(DPYD):c.1218G>A (p.Met406Ile) rs61622928 0.02183
NM_000110.4(DPYD):c.851-31C>T rs2786491 0.01754
NM_000110.4(DPYD):c.850+41T>C rs112550271 0.01564
NM_000110.4(DPYD):c.1601G>A (p.Ser534Asn) rs1801158 0.01380
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_000110.4(DPYD):c.483+18G>A rs56276561 0.01302
NM_000110.4(DPYD):c.1236G>A (p.Glu412=) rs56038477 0.01297
NM_000373.4(UMPS):c.1050T>A (p.Val350=) rs2291078 0.01154
NM_001385.3(DPYS):c.1062T>C (p.Asp354=) rs35013010 0.01112
NM_016327.3(UPB1):c.873+9C>T rs111674727 0.01060
NM_016327.3(UPB1):c.846C>T (p.Phe282=) rs2232867 0.00859
NM_016327.3(UPB1):c.874-64A>G rs2232869 0.00842
NM_000110.4(DPYD):c.1371C>T (p.Asn457=) rs57918000 0.00785
NM_000110.4(DPYD):c.958+36A>G rs114968502 0.00780
NM_001385.3(DPYS):c.1029C>G (p.Thr343=) rs117104587 0.00736
NM_016327.3(UPB1):c.957G>A (p.Val319=) rs62231899 0.00726
NM_000110.4(DPYD):c.151-69G>A rs115632870 0.00703
NM_000110.4(DPYD):c.557A>G (p.Tyr186Cys) rs115232898 0.00622
NM_016327.3(UPB1):c.365-67G>A rs79571400 0.00570
NM_000110.4(DPYD):c.1905+1G>A rs3918290 0.00474
NM_001385.3(DPYS):c.1092+9C>T rs138453168 0.00444
NM_001385.3(DPYS):c.765T>C (p.Ala255=) rs35371065 0.00426
NM_016327.3(UPB1):c.976C>A (p.Arg326=) rs113975342 0.00403
NM_016327.3(UPB1):c.254C>A (p.Ala85Glu) rs34035085 0.00401
NM_001385.3(DPYS):c.-104T>C rs541934140 0.00394
NM_016327.3(UPB1):c.702C>T (p.Tyr234=) rs74883165 0.00382
NM_000110.4(DPYD):c.2846A>T (p.Asp949Val) rs67376798 0.00334
NM_001385.3(DPYS):c.1093-47C>A rs192507470 0.00210
NM_001385.3(DPYS):c.264+30G>A rs552354398 0.00169
NM_000110.4(DPYD):c.234-81G>A rs552156826 0.00132
NM_001385.3(DPYS):c.264+5C>T rs672601293 0.00116
NM_001385.3(DPYS):c.1002G>A (p.Gln334=) rs148318692 0.00086
NM_000110.4(DPYD):c.2766+19A>G rs375268978 0.00056
NM_000110.4(DPYD):c.1524+16C>A rs199469537 0.00048
NM_016327.3(UPB1):c.143C>G (p.Ser48Cys) rs145989498 0.00042
NM_000110.4(DPYD):c.1679T>G (p.Ile560Ser) rs55886062 0.00040
NM_000110.4(DPYD):c.1615G>A (p.Gly539Arg) rs142619737 0.00032
NM_000110.4(DPYD):c.1358C>G (p.Pro453Arg) rs144395748 0.00031
NM_000110.4(DPYD):c.1905C>T (p.Asn635=) rs3918289 0.00021
NM_000110.4(DPYD):c.525G>A (p.Ser175=) rs6670886 0.00019
NM_001385.3(DPYS):c.1092+38C>T rs371343634 0.00019
NM_000110.4(DPYD):c.2161G>A (p.Ala721Thr) rs145548112 0.00010
NM_000110.4(DPYD):c.2049C>G (p.Ala683=) rs183475941 0.00008
NM_000110.4(DPYD):c.2180-44T>C rs672601280 0.00004
NM_000110.4(DPYD):c.2329G>T (p.Ala777Ser) rs672601276 0.00004
NM_000110.4(DPYD):c.1555C>T (p.Pro519Ser) rs672601282 0.00003
NM_000110.4(DPYD):c.2058+42A>G rs368002831 0.00003
NM_000110.4(DPYD):c.2300-109T>C rs672601279 0.00003
NM_001385.3(DPYS):c.1412A>G (p.Tyr471Cys) rs373070454 0.00003
NM_000110.4(DPYD):c.*173T>C rs672601272
NM_000110.4(DPYD):c.*736A>T rs672601271
NM_000110.4(DPYD):c.*911A>G rs672601270
NM_000110.4(DPYD):c.*961A>G rs672601269
NM_000110.4(DPYD):c.1129-11T>G rs672601283
NM_000110.4(DPYD):c.1741-65C>T rs672601281
NM_000110.4(DPYD):c.2299+100C>T rs34534958
NM_000110.4(DPYD):c.2300-40G>T rs672601278
NM_000110.4(DPYD):c.2301G>T (p.Gly767=) rs672601277
NM_000110.4(DPYD):c.233+36T>C rs672601290
NM_000110.4(DPYD):c.2532A>G (p.Glu844=) rs672601275
NM_000110.4(DPYD):c.2598A>G (p.Pro866=) rs672601274
NM_000110.4(DPYD):c.265A>T (p.Lys89Ter) rs672601289
NM_000110.4(DPYD):c.269G>T (p.Ser90Ile) rs672601288
NM_000110.4(DPYD):c.2987G>A (p.Cys996Tyr) rs672601273
NM_000110.4(DPYD):c.3067C>A (p.Pro1023Thr) rs114096998
NM_000110.4(DPYD):c.542A>C (p.Lys181Thr) rs672601287
NM_000110.4(DPYD):c.850+90T>C rs672601286
NM_000110.4(DPYD):c.869A>G (p.Lys290Arg) rs672601285
NM_000110.4(DPYD):c.887G>A (p.Gly296Asp) rs672601284
NM_000110.4(DPYD):c.959-51T>C rs115349832
NM_000373.4(UMPS):c.1408G>T (p.Ala470Ser) rs672601291
NM_000373.4(UMPS):c.983-55C>G rs694897
NM_001385.3(DPYS):c.1307T>C (p.Val436Ala) rs672601292
NM_001385.3(DPYS):c.1506del (p.Arg503fs) rs79080341
NM_016327.2(UPB1):c.-80C>G rs2070474

The information on this website is not intended for direct diagnostic use or medical decision-making without review by a genetics professional. Individuals should not change their health behavior solely on the basis of information contained on this website. Neither the University of Utah nor the National Institutes of Health independently verfies the submitted information. If you have questions about the information contained on this website, please see a health care professional.