ClinVar Miner

List of variants in gene UMPS reported as benign for Orotic aciduria

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Gene type:
ClinVar version:
Total variants: 49
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HGVS dbSNP gnomAD frequency
NM_000373.4(UMPS):c.*4138T>G rs593292 0.93851
NM_000373.3(UMPS):c.-28A>G rs1139538 0.54345
NM_000373.3(UMPS):c.-110A>G rs2279198 0.54337
NM_000373.4(UMPS):c.*726C>T rs649652 0.51631
NM_000373.3(UMPS):c.-67T>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.*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.1336A>G (p.Ile446Val) rs3772809 0.01116
NM_000373.4(UMPS):c.*3131G>A rs140750390 0.00779
NM_000373.4(UMPS):c.*4344T>C rs180944864 0.00372
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.*1088T>G rs535422876 0.00204
NM_000373.4(UMPS):c.*5014C>T rs569469184 0.00001
NM_000373.4(UMPS):c.*1299del rs11330991
NM_000373.4(UMPS):c.*2718C>T rs201997594
NM_000373.4(UMPS):c.*2930TTTG[4] rs10631393
NM_000373.4(UMPS):c.*4316C>A rs689449

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