ClinVar Miner

List of variants in gene DPYD studied for not provided

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Gene type:
ClinVar version:
Total variants: 202
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HGVS dbSNP gnomAD frequency
NM_000110.4(DPYD):c.681-237G>A rs2786511 0.99703
NM_000110.4(DPYD):c.2908-69A>G rs290855 0.79607
NM_000110.4(DPYD):c.85= (p.Cys29=) rs1801265 0.72034
NM_000110.4(DPYD):c.2622+230G>A rs4950023 0.63891
NM_000110.4(DPYD):c.1740+40A>G rs2811178 0.61570
NM_000110.4(DPYD):c.1525-209G>A rs1337752 0.61464
NM_000110.4(DPYD):c.1975-213G>C rs6699630 0.49922
NM_000110.4(DPYD):c.*768G>A rs291592 0.43806
NM_000110.4(DPYD):c.*780C>T rs291593 0.28025
NM_000110.4(DPYD):c.85T>C (p.Cys29Arg) rs1801265 0.27966
NM_000110.4(DPYD):c.2058+101T>C rs1890138 0.25652
NM_000110.4(DPYD):c.2059-94G>T rs7556439 0.23481
NM_000110.4(DPYD):c.2058+230A>G rs11582179 0.19615
NM_000110.4(DPYD):c.1627A>G (p.Ile543Val) rs1801159 0.18679
NM_000110.4(DPYD):c.1906-123C>A rs56279424 0.18551
NM_000110.4(DPYD):c.1974+75A>G rs72728438 0.18528
NM_000110.4(DPYD):c.1740+39C>T rs2786783 0.17597
NM_000110.4(DPYD):c.958+134T>G rs2811202 0.15180
NM_000110.4(DPYD):c.2767-333G>A rs2171826 0.14547
NM_000110.4(DPYD):c.*274T>C rs56160474 0.14536
NM_000110.4(DPYD):c.2908-58G>C rs17116357 0.14517
NM_000110.4(DPYD):c.680+139G>A rs6668296 0.13627
NM_000110.4(DPYD):c.483+837A>G rs55684412 0.12682
NM_000110.4(DPYD):c.2058+263G>A rs55652347 0.09879
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.2442+163A>G rs17432999 0.03917
NM_000110.4(DPYD):c.2194G>A (p.Val732Ile) rs1801160 0.03794
NM_000110.4(DPYD):c.*900T>C rs17470762 0.02724
NM_000110.4(DPYD):c.1524+176G>T rs2786525 0.02721
NM_000110.4(DPYD):c.1340-181C>A rs2811162 0.02720
NM_000110.4(DPYD):c.1525-90G>A rs6657204 0.02563
NM_000110.4(DPYD):c.1218G>A (p.Met406Ile) rs61622928 0.02183
NM_000110.4(DPYD):c.1906-24A>C rs12078940 0.01855
NM_000110.4(DPYD):c.2058+264C>T rs74105115 0.01840
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_000110.4(DPYD):c.681-8C>T rs74774246 0.01331
NM_000110.4(DPYD):c.483+18G>A rs56276561 0.01302
NM_000110.4(DPYD):c.1236G>A (p.Glu412=) rs56038477 0.01297
NM_000110.4(DPYD):c.1129-5923C>G rs75017182 0.01296
NM_000110.4(DPYD):c.483+279C>A rs79063448 0.01213
NM_000110.4(DPYD):c.1371C>T (p.Asn457=) rs57918000 0.00785
NM_000110.4(DPYD):c.958+36A>G rs114968502 0.00780
NM_000110.4(DPYD):c.2058+157G>A rs115139529 0.00747
NM_000110.4(DPYD):c.151-69G>A rs115632870 0.00703
NM_000110.4(DPYD):c.557A>G (p.Tyr186Cys) rs115232898 0.00622
NM_000110.4(DPYD):c.483+601C>G rs72977734 0.00584
NM_000110.4(DPYD):c.1494A>G (p.Gln498=) rs116364703 0.00519
NM_000110.4(DPYD):c.775A>G (p.Lys259Glu) rs45589337 0.00513
NM_000110.4(DPYD):c.484-145T>A rs78682297 0.00477
NM_000110.4(DPYD):c.1905+1G>A rs3918290 0.00474
NM_000110.4(DPYD):c.2908-208A>G rs76665493 0.00437
NM_000110.4(DPYD):c.1128+161G>A rs74105265 0.00414
NM_000110.4(DPYD):c.2846A>T (p.Asp949Val) rs67376798 0.00334
NM_000110.4(DPYD):c.2180-3T>C rs74104343 0.00158
NM_000110.4(DPYD):c.234-81G>A rs552156826 0.00132
NM_000110.4(DPYD):c.868A>G (p.Lys290Glu) rs146356975 0.00078
NM_000110.4(DPYD):c.1701A>T (p.Gly567=) rs148372305 0.00058
NM_000110.4(DPYD):c.2766+19A>G rs375268978 0.00056
NM_000110.4(DPYD):c.2915A>G (p.Gln972Arg) rs145529148 0.00054
NM_000110.4(DPYD):c.451A>G (p.Asn151Asp) rs200562975 0.00049
NM_000110.4(DPYD):c.1524+16C>A rs199469537 0.00048
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_000110.4(DPYD):c.2998G>A (p.Asp1000Asn) rs151074666 0.00018
NM_000110.4(DPYD):c.274C>G (p.Pro92Ala) rs143986398 0.00013
NM_000110.4(DPYD):c.1229G>A (p.Arg410Gln) rs199646142 0.00012
NM_000110.4(DPYD):c.2303C>A (p.Thr768Lys) rs56005131 0.00011
NM_000110.4(DPYD):c.2161G>A (p.Ala721Thr) rs145548112 0.00010
NM_000110.4(DPYD):c.1180C>T (p.Arg394Trp) rs140602333 0.00009
NM_000110.4(DPYD):c.258G>A (p.Pro86=) rs201841475 0.00009
NM_000110.4(DPYD):c.345G>C (p.Met115Ile) rs377169736 0.00009
NM_000110.4(DPYD):c.2049C>G (p.Ala683=) rs183475941 0.00008
NM_000110.4(DPYD):c.1774C>T (p.Arg592Trp) rs59086055 0.00006
NM_000110.4(DPYD):c.1990G>T (p.Ala664Ser) rs138545885 0.00006
NM_000110.4(DPYD):c.2058+42A>G rs368002831 0.00006
NM_000110.4(DPYD):c.2071G>T (p.Val691Leu) rs202212118 0.00006
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.86G>A (p.Cys29Tyr) rs528768620 0.00006
NM_000110.4(DPYD):c.1651G>A (p.Ala551Thr) rs777425216 0.00004
NM_000110.4(DPYD):c.1681C>T (p.Arg561Ter) rs1057516968 0.00004
NM_000110.4(DPYD):c.187A>G (p.Lys63Glu) rs367619008 0.00004
NM_000110.4(DPYD):c.2180-44T>C rs672601280 0.00004
NM_000110.4(DPYD):c.2275C>T (p.Arg759Ter) rs759372918 0.00004
NM_000110.4(DPYD):c.2329G>T (p.Ala777Ser) rs672601276 0.00004
NM_000110.4(DPYD):c.257C>T (p.Pro86Leu) rs568132506 0.00004
NM_000110.4(DPYD):c.321+15A>C rs370363977 0.00004
NM_000110.4(DPYD):c.995G>A (p.Arg332Gln) rs747633945 0.00004
NM_000110.4(DPYD):c.1796T>C (p.Met599Thr) rs147601618 0.00003
NM_000110.4(DPYD):c.2074C>T (p.Arg692Trp) rs538703919 0.00003
NM_000110.4(DPYD):c.2300-109T>C rs672601279 0.00003
NM_000110.4(DPYD):c.2378C>T (p.Thr793Ile) rs547099198 0.00002
NM_000110.4(DPYD):c.2564C>G (p.Ala855Gly) rs1031125025 0.00002
NM_000110.4(DPYD):c.2599C>T (p.Arg867Cys) rs557220418 0.00002
NM_000110.4(DPYD):c.1139C>G (p.Ala380Gly) rs1354585423 0.00001
NM_000110.4(DPYD):c.127_134del (p.Lys42_Arg43insTer) rs1207177925 0.00001
NM_000110.4(DPYD):c.1555C>T (p.Pro519Ser) rs672601282 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.2179+4A>G rs746718279 0.00001
NM_000110.4(DPYD):c.2279C>T (p.Thr760Ile) rs112766203 0.00001
NM_000110.4(DPYD):c.2299+7G>A rs369672458 0.00001
NM_000110.4(DPYD):c.2528T>C (p.Ile843Thr) rs571114616 0.00001
NM_000110.4(DPYD):c.2758A>C (p.Thr920Pro) rs886046575 0.00001
NM_000110.4(DPYD):c.2767-1G>A rs377221676 0.00001
NM_000110.4(DPYD):c.61C>T (p.Arg21Ter) rs72549310 0.00001
GRCh37/hg19 1p21.3(chr1:97510579-97918688)x3
GRCh37/hg19 1p21.3(chr1:97638240-97660637)x1
GRCh37/hg19 1p21.3(chr1:97646028-98052358)x1
GRCh37/hg19 1p21.3(chr1:97744762-97952905)x1
GRCh37/hg19 1p21.3(chr1:97757431-97798061)x1
GRCh37/hg19 1p21.3(chr1:97874956-98098498)x1
GRCh37/hg19 1p21.3(chr1:97876522-98103813)x1
GRCh37/hg19 1p21.3(chr1:97905533-97985890)x3
GRCh37/hg19 1p21.3(chr1:98031183-98144976)x1
GRCh37/hg19 1p21.3(chr1:98036616-98250754)x3
NC_000001.11:g.97921399A>C rs61787828
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.1020T>G (p.Ala340=)
NM_000110.4(DPYD):c.1031C>T (p.Ala344Val)
NM_000110.4(DPYD):c.1054C>G (p.Leu352Val)
NM_000110.4(DPYD):c.1072C>T (p.Arg358Cys)
NM_000110.4(DPYD):c.1129-11T>G rs672601283
NM_000110.4(DPYD):c.1140T>C (p.Ala380=)
NM_000110.4(DPYD):c.1243G>T (p.Glu415Ter) rs755031341
NM_000110.4(DPYD):c.1310C>T (p.Ala437Val) rs1290815802
NM_000110.4(DPYD):c.1349C>G (p.Ala450Gly) rs72975710
NM_000110.4(DPYD):c.1349C>T (p.Ala450Val) rs72975710
NM_000110.4(DPYD):c.1494A>T (p.Gln498His)
NM_000110.4(DPYD):c.1520T>C (p.Val507Ala)
NM_000110.4(DPYD):c.1525-132dup rs141050810
NM_000110.4(DPYD):c.1617A>G (p.Gly539=)
NM_000110.4(DPYD):c.1654A>G (p.Thr552Ala) rs771648776
NM_000110.4(DPYD):c.1740+140_1740+141insA rs56080540
NM_000110.4(DPYD):c.1740+75dup rs145228578
NM_000110.4(DPYD):c.1741-65C>T rs672601281
NM_000110.4(DPYD):c.1850C>T (p.Thr617Met)
NM_000110.4(DPYD):c.1865G>A (p.Cys622Tyr)
NM_000110.4(DPYD):c.1905+1G>C rs3918290
NM_000110.4(DPYD):c.1925T>C (p.Met642Thr) rs2101564724
NM_000110.4(DPYD):c.194C>T (p.Thr65Met)
NM_000110.4(DPYD):c.2043_2058del (p.Leu682fs) rs773499329
NM_000110.4(DPYD):c.2058+145T>C rs1879374
NM_000110.4(DPYD):c.2075G>A (p.Arg692Gln)
NM_000110.4(DPYD):c.2135del (p.Pro712fs) rs1064796552
NM_000110.4(DPYD):c.2195T>G (p.Val732Gly)
NM_000110.4(DPYD):c.2223G>C (p.Leu741=)
NM_000110.4(DPYD):c.2299+100C>T rs34534958
NM_000110.4(DPYD):c.2300-1G>C
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.2347C>T (p.Arg783Cys)
NM_000110.4(DPYD):c.2442+283G>A rs11808108
NM_000110.4(DPYD):c.2442+69dup rs544905665
NM_000110.4(DPYD):c.2494A>G (p.Thr832Ala) rs1218404593
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.2623-8C>T rs1570451084
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.2777G>A (p.Gly926Glu)
NM_000110.4(DPYD):c.279T>C (p.Thr93=) rs2101070143
NM_000110.4(DPYD):c.2848G>A (p.Glu950Lys)
NM_000110.4(DPYD):c.2886C>T (p.Thr962=)
NM_000110.4(DPYD):c.2907+55C>T rs290854
NM_000110.4(DPYD):c.2975G>A (p.Cys992Tyr) rs2101548857
NM_000110.4(DPYD):c.2987G>A (p.Cys996Tyr) rs672601273
NM_000110.4(DPYD):c.2994T>C (p.Ile998=)
NM_000110.4(DPYD):c.299_302del (p.Phe100fs) rs72549309
NM_000110.4(DPYD):c.3062T>C (p.Val1021Ala)
NM_000110.4(DPYD):c.3067C>A (p.Pro1023Thr) rs114096998
NM_000110.4(DPYD):c.321+1G>A
NM_000110.4(DPYD):c.484-4G>A
NM_000110.4(DPYD):c.489C>G (p.Phe163Leu)
NM_000110.4(DPYD):c.511A>T (p.Ile171Phe)
NM_000110.4(DPYD):c.542A>C (p.Lys181Thr) rs672601287
NM_000110.4(DPYD):c.556T>G (p.Tyr186Asp)
NM_000110.4(DPYD):c.623G>T (p.Arg208Leu) rs376073289
NM_000110.4(DPYD):c.807C>T (p.Ser269=)
NM_000110.4(DPYD):c.850+90T>C rs672601286
NM_000110.4(DPYD):c.851-255A>G rs3790386
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.895C>T (p.Gln299Ter) rs2102259303
NM_000110.4(DPYD):c.958+135dup rs1397160848
NM_000110.4(DPYD):c.959-51T>C rs115349832
NM_000110.4(DPYD):c.976T>C (p.Ser326Pro)

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