ClinVar Miner

List of variants in gene UMPS studied for Oroticaciduria

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Gene type:
ClinVar version:
Total variants: 190
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HGVS dbSNP gnomAD frequency
NM_000373.4(UMPS):c.*4138T>G rs593292 0.93851
NC_000003.12:g.124730444A>G rs1139538 0.54345
NC_000003.12:g.124730362A>G rs2279198 0.54337
NM_000373.4(UMPS):c.*726C>T rs649652 0.51631
NC_000003.12:g.124730405T>C rs2279199 0.44281
NM_000373.4(UMPS):c.*1211C>A rs11706118 0.26274
NM_000373.4(UMPS):c.*1711T>G rs10934684 0.24960
NM_000373.4(UMPS):c.*4278G>A rs11927687 0.24793
NM_000373.4(UMPS):c.*3589C>T rs10934685 0.24694
NM_000373.4(UMPS):c.1320C>T (p.Gly440=) rs13146 0.17670
NM_000373.4(UMPS):c.*3152G>A rs1979413 0.17658
NM_000373.4(UMPS):c.638G>C (p.Gly213Ala) rs1801019 0.17658
NM_000373.4(UMPS):c.*1051G>T rs2242248 0.17657
NM_000373.4(UMPS):c.*3183dup rs11443775 0.17648
NM_000373.4(UMPS):c.*2995A>G rs1979411 0.17646
NM_000373.4(UMPS):c.*725A>T rs2242247 0.17625
NM_000373.4(UMPS):c.*3990A>T rs77082052 0.17624
NM_000373.4(UMPS):c.*2614G>A rs4677940 0.17342
NM_000373.4(UMPS):c.*3026G>A rs1979412 0.16689
NM_000373.4(UMPS):c.*56del rs3836305 0.09036
NM_000373.4(UMPS):c.*1319G>A rs821375 0.07438
NM_000373.4(UMPS):c.*4430C>T rs591963 0.07331
NM_000373.4(UMPS):c.*3537G>A rs606369 0.02705
NM_000373.4(UMPS):c.*4486G>A rs591886 0.02695
NM_000373.4(UMPS):c.*4485G>T rs591896 0.02694
NM_000373.4(UMPS):c.*4906G>C rs702039 0.02508
NM_000373.4(UMPS):c.*3414A>G rs115977637 0.01658
NM_000373.4(UMPS):c.1038A>G (p.Pro346=) rs17843835 0.01610
NM_000373.4(UMPS):c.*4739G>T rs73858830 0.01271
NM_000373.4(UMPS):c.*993A>T rs74704429 0.01265
NM_000373.4(UMPS):c.1050T>A (p.Val350=) rs2291078 0.01154
NM_000373.4(UMPS):c.*28A>G rs3772810 0.01145
NM_000373.4(UMPS):c.*983C>T rs11706036 0.01142
NM_000373.4(UMPS):c.*3376C>T rs76151694 0.01141
NM_000373.4(UMPS):c.*4252G>T rs117707217 0.01141
NM_000373.4(UMPS):c.*526A>G rs2242246 0.01140
NM_000373.4(UMPS):c.*4717C>T rs117624716 0.01139
NM_000373.4(UMPS):c.*1326C>A rs2242249 0.01137
NM_000373.4(UMPS):c.*4078T>C rs13315593 0.01135
NM_000373.4(UMPS):c.1336A>G (p.Ile446Val) rs3772809 0.01116
NM_000373.4(UMPS):c.*2901G>C rs144492816 0.00977
NM_000373.4(UMPS):c.*2884A>G rs139426908 0.00976
NM_000373.4(UMPS):c.*3732C>T rs111966656 0.00908
NM_000373.4(UMPS):c.*3131G>A rs140750390 0.00779
NM_000373.4(UMPS):c.*1349G>A rs138112683 0.00768
NM_000373.4(UMPS):c.21T>C (p.Ala7=) rs17843775 0.00389
NM_000373.4(UMPS):c.*4344T>C rs180944864 0.00372
NM_000373.4(UMPS):c.*4876C>G rs192036374 0.00361
NM_000373.4(UMPS):c.88A>G (p.Ser30Gly) rs17843776 0.00350
NM_000373.4(UMPS):c.*868del rs570945751 0.00329
NM_000373.4(UMPS):c.*3020G>A rs185476268 0.00281
NM_000373.4(UMPS):c.*1931G>A rs143926148 0.00269
NM_000373.4(UMPS):c.*3785C>G rs181697356 0.00269
NM_000373.4(UMPS):c.*4623C>T rs75775614 0.00257
NM_000373.4(UMPS):c.*1088T>G rs535422876 0.00204
NM_000373.4(UMPS):c.*1517C>A rs74477033 0.00179
NM_000373.4(UMPS):c.*4511G>A rs569255721 0.00165
NM_000373.4(UMPS):c.*4755G>A rs189776179 0.00121
NM_000373.4(UMPS):c.495G>A (p.Ala165=) rs75971351 0.00119
NM_000373.4(UMPS):c.*4895A>G rs142288742 0.00111
NM_000373.4(UMPS):c.827G>A (p.Ser276Asn) rs140804035 0.00074
NM_000373.4(UMPS):c.*1155T>C rs112368493 0.00070
NM_000373.4(UMPS):c.*3359G>T rs752390899 0.00064
NM_000373.4(UMPS):c.*4016T>C rs77601301 0.00061
NM_000373.4(UMPS):c.*2552A>G rs548237479 0.00059
NM_000373.4(UMPS):c.*1050C>T rs186445088 0.00058
NM_000373.4(UMPS):c.*2410_*2412del rs886057878 0.00046
NM_000373.4(UMPS):c.*1902G>A rs147465900 0.00041
NM_000373.4(UMPS):c.*2605G>A rs554810943 0.00041
NM_000373.4(UMPS):c.*3065C>T rs116880739 0.00038
NM_000373.4(UMPS):c.*4693G>A rs757504757 0.00038
NM_000373.4(UMPS):c.*274C>T rs556138886 0.00035
NM_000373.4(UMPS):c.1063C>A (p.Gln355Lys) rs202135467 0.00031
NM_000373.4(UMPS):c.*4672C>T rs549550940 0.00028
NM_000373.4(UMPS):c.*3701C>T rs768769772 0.00019
NM_000373.4(UMPS):c.*3264G>A rs190423326 0.00018
NM_000373.4(UMPS):c.*4116G>A rs886057894 0.00018
NM_000373.4(UMPS):c.*4065C>T rs759188574 0.00017
NM_000373.4(UMPS):c.1273+14C>T rs374339942 0.00015
NM_000373.4(UMPS):c.*2230C>T rs565272396 0.00014
NM_000373.4(UMPS):c.1374T>C (p.Asp458=) rs200608473 0.00013
NM_000373.4(UMPS):c.*2159C>T rs559652457 0.00012
NM_000373.4(UMPS):c.*3374C>G rs143276999 0.00012
NM_000373.4(UMPS):c.953T>C (p.Ile318Thr) rs375535366 0.00012
NM_000373.4(UMPS):c.*3494G>A rs575063959 0.00011
NM_000373.4(UMPS):c.*4178A>G rs758463509 0.00010
NM_000373.4(UMPS):c.*4215C>T rs780219461 0.00010
NM_000373.4(UMPS):c.1157C>T (p.Ala386Val) rs202158549 0.00010
NM_000373.4(UMPS):c.*1192C>T rs771857226 0.00009
NM_000373.4(UMPS):c.*348C>T rs186337218 0.00009
NM_000373.4(UMPS):c.*4119T>C rs747201281 0.00008
NM_000373.4(UMPS):c.*37C>T rs747349290 0.00006
NM_000373.4(UMPS):c.*4231A>G rs886057895 0.00006
NM_000373.4(UMPS):c.*1342C>T rs183081203 0.00005
NM_000373.4(UMPS):c.*1520del rs758378045 0.00005
NM_000373.4(UMPS):c.*2231G>A rs531076251 0.00005
NM_000373.4(UMPS):c.1316T>C (p.Ile439Thr) rs201516429 0.00005
NM_000373.4(UMPS):c.*2172A>G rs886057877 0.00004
NM_000373.4(UMPS):c.*3326C>T rs538340122 0.00004
NM_000373.4(UMPS):c.*3598C>G rs886057892 0.00004
NM_000373.4(UMPS):c.*4263T>C rs558675693 0.00004
NM_000373.4(UMPS):c.1052T>C (p.Val351Ala) rs763246334 0.00004
NM_000373.4(UMPS):c.811G>C (p.Asp271His) rs779077289 0.00004
NM_000373.4(UMPS):c.*1853G>A rs552936733 0.00003
NM_000373.4(UMPS):c.*2054A>G rs886057876 0.00003
NM_000373.4(UMPS):c.*2356T>C rs148772995 0.00003
NM_000373.4(UMPS):c.*2783C>T rs150877793 0.00003
NM_000373.4(UMPS):c.*3130C>T rs374728245 0.00003
NM_000373.4(UMPS):c.*4496G>A rs886057896 0.00003
NM_000373.4(UMPS):c.*4934A>G rs1274590115 0.00003
NM_000373.4(UMPS):c.1117T>G (p.Ser373Ala) rs541686805 0.00003
NM_000373.4(UMPS):c.*1100C>T rs756033821 0.00002
NM_000373.4(UMPS):c.*1128G>T rs556684234 0.00002
NM_000373.4(UMPS):c.*3447T>C rs764528076 0.00002
NM_000373.4(UMPS):c.*4638G>A rs900083389 0.00002
NM_000373.4(UMPS):c.*691C>G rs886057872 0.00002
NM_000373.4(UMPS):c.-19A>G rs747117815 0.00002
NM_000373.4(UMPS):c.1088G>A (p.Arg363Gln) rs201332523 0.00002
NM_000373.4(UMPS):c.1158G>A (p.Ala386=) rs749629397 0.00002
NM_000373.4(UMPS):c.1290A>G (p.Gln430=) rs17843847 0.00002
NM_000373.4(UMPS):c.385G>T (p.Gly129Ter) rs747405574 0.00002
NM_000373.4(UMPS):c.*1080A>G rs780894047 0.00001
NM_000373.4(UMPS):c.*1249C>G rs1355056450 0.00001
NM_000373.4(UMPS):c.*1418T>A rs886057874 0.00001
NM_000373.4(UMPS):c.*1535G>A rs886057875 0.00001
NM_000373.4(UMPS):c.*1840A>G rs183441859 0.00001
NM_000373.4(UMPS):c.*2197A>G rs1443804306 0.00001
NM_000373.4(UMPS):c.*2632C>A rs886057879 0.00001
NM_000373.4(UMPS):c.*2741C>T rs2063604796 0.00001
NM_000373.4(UMPS):c.*3083G>T rs886057887 0.00001
NM_000373.4(UMPS):c.*3193T>C rs886057889 0.00001
NM_000373.4(UMPS):c.*3258A>C rs886057890 0.00001
NM_000373.4(UMPS):c.*3495T>C rs886057891 0.00001
NM_000373.4(UMPS):c.*3512C>G rs997779825 0.00001
NM_000373.4(UMPS):c.*3594A>G rs546056717 0.00001
NM_000373.4(UMPS):c.*4432A>G rs1181472642 0.00001
NM_000373.4(UMPS):c.*4782G>A rs2063624147 0.00001
NM_000373.4(UMPS):c.*4862A>G rs886057898 0.00001
NM_000373.4(UMPS):c.*5014C>T rs569469184 0.00001
NM_000373.4(UMPS):c.*5027A>G rs886057899 0.00001
NM_000373.4(UMPS):c.*5085C>A rs929552121 0.00001
NM_000373.4(UMPS):c.*5133del rs886057901 0.00001
NM_000373.4(UMPS):c.*516A>G rs1393987054 0.00001
NM_000373.4(UMPS):c.768A>G (p.Leu256=) rs780392037 0.00001
NM_000373.3(UMPS):c.[286A>G;285G>C]
NM_000373.4(UMPS):c.*1153C>T rs768119744
NM_000373.4(UMPS):c.*1298_*1299del rs11330991
NM_000373.4(UMPS):c.*1299del rs11330991
NM_000373.4(UMPS):c.*1306_*1307del rs777742646
NM_000373.4(UMPS):c.*1843A>C rs920254780
NM_000373.4(UMPS):c.*2035C>T rs2063595086
NM_000373.4(UMPS):c.*2036A>T rs1211026340
NM_000373.4(UMPS):c.*2202del rs397844102
NM_000373.4(UMPS):c.*2412GAA[1] rs369976877
NM_000373.4(UMPS):c.*255T>C rs2063580266
NM_000373.4(UMPS):c.*2631C>G rs2063601529
NM_000373.4(UMPS):c.*2671T>G rs886057880
NM_000373.4(UMPS):c.*2672TG[18] rs58981387
NM_000373.4(UMPS):c.*2672TG[20] rs58981387
NM_000373.4(UMPS):c.*2672TG[22] rs58981387
NM_000373.4(UMPS):c.*2672TG[24] rs58981387
NM_000373.4(UMPS):c.*2672TG[25] rs58981387
NM_000373.4(UMPS):c.*2672TG[26] rs58981387
NM_000373.4(UMPS):c.*2703G>A rs886057883
NM_000373.4(UMPS):c.*2711G>A rs2063603702
NM_000373.4(UMPS):c.*2715_*2718del rs886057884
NM_000373.4(UMPS):c.*2716T>C rs886057885
NM_000373.4(UMPS):c.*2718C>T rs201997594
NM_000373.4(UMPS):c.*2930TTTG[4] rs10631393
NM_000373.4(UMPS):c.*3367C>A rs768556841
NM_000373.4(UMPS):c.*4013ATATA[1] rs541152211
NM_000373.4(UMPS):c.*4316C>A rs689449
NM_000373.4(UMPS):c.*4570C>T rs1387243813
NM_000373.4(UMPS):c.*469C>T rs2063582436
NM_000373.4(UMPS):c.*4765_*4767del rs886057897
NM_000373.4(UMPS):c.*4883C>T rs148029686
NM_000373.4(UMPS):c.*5120_*5124del rs556352266
NM_000373.4(UMPS):c.*814C>T rs763914466
NM_000373.4(UMPS):c.*882G>C rs2063585502
NM_000373.4(UMPS):c.105C>T (p.Pro35=) rs772728104
NM_000373.4(UMPS):c.1123G>A (p.Gly375Ser) rs1344899647
NM_000373.4(UMPS):c.1158+10G>C rs371807738
NM_000373.4(UMPS):c.1213C>T (p.Arg405Ter)
NM_000373.4(UMPS):c.188del (p.Asn63fs)
NM_000373.4(UMPS):c.18A>G (p.Ala6=) rs141501397
NM_000373.4(UMPS):c.326T>G (p.Val109Gly) rs121917892
NM_000373.4(UMPS):c.441T>C (p.Thr147=) rs886057871
NM_000373.4(UMPS):c.443A>T (p.Asp148Val)
NM_000373.4(UMPS):c.799T>C (p.Leu267=) rs2063529927
NM_000373.4(UMPS):c.857T>A (p.Ile286Asn) rs200305064

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