ClinVar Miner

List of variants in gene UMPS reported as uncertain significance for hematologic disorder

Included ClinVar conditions (819):
Minimum submission review status: Collection method:
Minimum conflict level:
Gene type:
ClinVar version:
Total variants: 117
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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

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