ClinVar Miner

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

Included ClinVar conditions (281):
Minimum submission review status: Collection method:
Minimum conflict level:
Gene type:
ClinVar version:
Total variants: 114
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HGVS dbSNP
NM_000373.4(UMPS):c.*1050C>T rs186445088
NM_000373.4(UMPS):c.*1080A>G rs780894047
NM_000373.4(UMPS):c.*1100C>T
NM_000373.4(UMPS):c.*1128G>T
NM_000373.4(UMPS):c.*1153C>T rs768119744
NM_000373.4(UMPS):c.*1192C>T
NM_000373.4(UMPS):c.*1249C>G
NM_000373.4(UMPS):c.*1298_*1299del rs11330991
NM_000373.4(UMPS):c.*1306_*1307del rs777742646
NM_000373.4(UMPS):c.*1342C>T rs183081203
NM_000373.4(UMPS):c.*1418T>A rs886057874
NM_000373.4(UMPS):c.*1517C>A rs74477033
NM_000373.4(UMPS):c.*1520del rs758378045
NM_000373.4(UMPS):c.*1535G>A rs886057875
NM_000373.4(UMPS):c.*1840A>G rs183441859
NM_000373.4(UMPS):c.*1843A>C
NM_000373.4(UMPS):c.*1853G>A
NM_000373.4(UMPS):c.*1902G>A rs147465900
NM_000373.4(UMPS):c.*2035C>T
NM_000373.4(UMPS):c.*2036A>T
NM_000373.4(UMPS):c.*2054A>G rs886057876
NM_000373.4(UMPS):c.*2159C>T rs559652457
NM_000373.4(UMPS):c.*2172A>G rs886057877
NM_000373.4(UMPS):c.*2197A>G
NM_000373.4(UMPS):c.*2230C>T rs565272396
NM_000373.4(UMPS):c.*2231G>A
NM_000373.4(UMPS):c.*2356T>C rs148772995
NM_000373.4(UMPS):c.*2410_*2412del rs886057878
NM_000373.4(UMPS):c.*2552A>G
NM_000373.4(UMPS):c.*255T>C
NM_000373.4(UMPS):c.*2605G>A rs554810943
NM_000373.4(UMPS):c.*2631C>G
NM_000373.4(UMPS):c.*2632C>A rs886057879
NM_000373.4(UMPS):c.*2671T>G rs886057880
NM_000373.4(UMPS):c.*2672_*2673TG[18] rs58981387
NM_000373.4(UMPS):c.*2672_*2673TG[20] rs58981387
NM_000373.4(UMPS):c.*2672_*2673TG[22] rs58981387
NM_000373.4(UMPS):c.*2672_*2673TG[24] rs58981387
NM_000373.4(UMPS):c.*2672_*2673TG[25] rs58981387
NM_000373.4(UMPS):c.*2672_*2673TG[26] rs58981387
NM_000373.4(UMPS):c.*2703G>A rs886057883
NM_000373.4(UMPS):c.*2711G>A
NM_000373.4(UMPS):c.*2715_*2718del rs886057884
NM_000373.4(UMPS):c.*2716T>C rs886057885
NM_000373.4(UMPS):c.*2741C>T
NM_000373.4(UMPS):c.*274C>T
NM_000373.4(UMPS):c.*2783C>T
NM_000373.4(UMPS):c.*3083G>T rs886057887
NM_000373.4(UMPS):c.*3193T>C rs886057889
NM_000373.4(UMPS):c.*3258A>C rs886057890
NM_000373.4(UMPS):c.*3326C>T
NM_000373.4(UMPS):c.*3359G>T rs752390899
NM_000373.4(UMPS):c.*3367C>A rs768556841
NM_000373.4(UMPS):c.*3374C>G rs143276999
NM_000373.4(UMPS):c.*3447T>C rs764528076
NM_000373.4(UMPS):c.*3495T>C rs886057891
NM_000373.4(UMPS):c.*3512C>G
NM_000373.4(UMPS):c.*3594A>G
NM_000373.4(UMPS):c.*3598C>G rs886057892
NM_000373.4(UMPS):c.*3701C>T rs768769772
NM_000373.4(UMPS):c.*37C>T
NM_000373.4(UMPS):c.*4013_*4017ATATA[1] rs541152211
NM_000373.4(UMPS):c.*4065C>T rs759188574
NM_000373.4(UMPS):c.*4116G>A rs886057894
NM_000373.4(UMPS):c.*4119T>C
NM_000373.4(UMPS):c.*4178A>G rs758463509
NM_000373.4(UMPS):c.*4215C>T rs780219461
NM_000373.4(UMPS):c.*4231A>G rs886057895
NM_000373.4(UMPS):c.*4263T>C rs558675693
NM_000373.4(UMPS):c.*4432A>G
NM_000373.4(UMPS):c.*4496G>A rs886057896
NM_000373.4(UMPS):c.*4511G>A rs569255721
NM_000373.4(UMPS):c.*4570C>T
NM_000373.4(UMPS):c.*4623C>T
NM_000373.4(UMPS):c.*4638G>A
NM_000373.4(UMPS):c.*4672C>T
NM_000373.4(UMPS):c.*4693G>A
NM_000373.4(UMPS):c.*469C>T
NM_000373.4(UMPS):c.*4755G>A rs189776179
NM_000373.4(UMPS):c.*4765_*4767del rs886057897
NM_000373.4(UMPS):c.*4782G>A
NM_000373.4(UMPS):c.*4862A>G rs886057898
NM_000373.4(UMPS):c.*4883C>T rs148029686
NM_000373.4(UMPS):c.*4895A>G rs142288742
NM_000373.4(UMPS):c.*4934A>G
NM_000373.4(UMPS):c.*5027A>G rs886057899
NM_000373.4(UMPS):c.*5085C>A
NM_000373.4(UMPS):c.*5120_*5124del rs556352266
NM_000373.4(UMPS):c.*5133del rs886057901
NM_000373.4(UMPS):c.*516A>G
NM_000373.4(UMPS):c.*691C>G rs886057872
NM_000373.4(UMPS):c.*814C>T rs763914466
NM_000373.4(UMPS):c.*868del rs570945751
NM_000373.4(UMPS):c.*882G>C
NM_000373.4(UMPS):c.-19A>G rs747117815
NM_000373.4(UMPS):c.1052T>C (p.Val351Ala)
NM_000373.4(UMPS):c.105C>T (p.Pro35=)
NM_000373.4(UMPS):c.1088G>A (p.Arg363Gln)
NM_000373.4(UMPS):c.1117T>G (p.Ser373Ala)
NM_000373.4(UMPS):c.1157C>T (p.Ala386Val) rs202158549
NM_000373.4(UMPS):c.1158+10G>C
NM_000373.4(UMPS):c.1158G>A (p.Ala386=)
NM_000373.4(UMPS):c.1273+14C>T rs374339942
NM_000373.4(UMPS):c.1290A>G (p.Gln430=) rs17843847
NM_000373.4(UMPS):c.1316T>C (p.Ile439Thr)
NM_000373.4(UMPS):c.385G>T (p.Gly129Ter) rs747405574
NM_000373.4(UMPS):c.441T>C (p.Thr147=) rs886057871
NM_000373.4(UMPS):c.495G>A (p.Ala165=) rs75971351
NM_000373.4(UMPS):c.768A>G (p.Leu256=) rs780392037
NM_000373.4(UMPS):c.799T>C (p.Leu267=)
NM_000373.4(UMPS):c.811G>C (p.Asp271His)
NM_000373.4(UMPS):c.827G>A (p.Ser276Asn) rs140804035
NM_000373.4(UMPS):c.857T>A (p.Ile286Asn) rs200305064
NM_000373.4(UMPS):c.953T>C (p.Ile318Thr) rs375535366

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