ClinVar Miner

List of variants in gene UMPS reported as uncertain significance for anemia

Included ClinVar conditions (280):
Minimum submission review status: Collection method:
Minimum conflict level:
Gene type:
ClinVar version:
Total variants: 117
Download table as spreadsheet
HGVS dbSNP gnomAD frequency
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.*4623C>T rs75775614 0.00257
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.*3359G>T rs752390899 0.00064
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.*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.*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.*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.*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.*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.*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.*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_000373.4(UMPS):c.*1153C>T rs768119744
NM_000373.4(UMPS):c.*1298_*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.*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.*3367C>A rs768556841
NM_000373.4(UMPS):c.*4013ATATA[1] rs541152211
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.1158+10G>C rs371807738
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

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.