ClinVar Miner

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

Included ClinVar conditions (258):
Minimum submission review status: Collection method:
Minimum conflict level:
Gene type:
ClinVar version:
Total variants: 83
Download table as spreadsheet
HGVS dbSNP
NM_000373.3(UMPS):c.*1050C>T rs186445088
NM_000373.3(UMPS):c.*1080A>G rs780894047
NM_000373.3(UMPS):c.*1088T>G rs535422876
NM_000373.3(UMPS):c.*1153C>T rs768119744
NM_000373.3(UMPS):c.*1155T>C rs112368493
NM_000373.3(UMPS):c.*1298_*1299delTT rs11330991
NM_000373.3(UMPS):c.*1306_*1307delGA rs777742646
NM_000373.3(UMPS):c.*1342C>T rs183081203
NM_000373.3(UMPS):c.*1349G>A rs138112683
NM_000373.3(UMPS):c.*1418T>A rs886057874
NM_000373.3(UMPS):c.*1517C>A rs74477033
NM_000373.3(UMPS):c.*1520delA rs758378045
NM_000373.3(UMPS):c.*1535G>A rs886057875
NM_000373.3(UMPS):c.*1840A>G rs183441859
NM_000373.3(UMPS):c.*1902G>A rs147465900
NM_000373.3(UMPS):c.*2054A>G rs886057876
NM_000373.3(UMPS):c.*2159C>T rs559652457
NM_000373.3(UMPS):c.*2172A>G rs886057877
NM_000373.3(UMPS):c.*2230C>T rs565272396
NM_000373.3(UMPS):c.*2356T>C rs148772995
NM_000373.3(UMPS):c.*2410_*2412delGAG rs886057878
NM_000373.3(UMPS):c.*2605G>A rs554810943
NM_000373.3(UMPS):c.*2632C>A rs886057879
NM_000373.3(UMPS):c.*2671T>G rs886057880
NM_000373.3(UMPS):c.*2703G>A rs886057883
NM_000373.3(UMPS):c.*2704_*2713dupTGTGTGTGTG rs58981387
NM_000373.3(UMPS):c.*2706_*2713dupTGTGTGTG rs58981387
NM_000373.3(UMPS):c.*2708_*2713delTGTGTG rs58981387
NM_000373.3(UMPS):c.*2708_*2713dupTGTGTG rs58981387
NM_000373.3(UMPS):c.*2712_*2713delTG rs58981387
NM_000373.3(UMPS):c.*2712_*2713dupTG rs58981387
NM_000373.3(UMPS):c.*2715_*2718delATGC rs886057884
NM_000373.3(UMPS):c.*2716T>C rs886057885
NM_000373.3(UMPS):c.*3065C>T rs116880739
NM_000373.3(UMPS):c.*3083G>T rs886057887
NM_000373.3(UMPS):c.*3130C>T rs374728245
NM_000373.3(UMPS):c.*3131G>A rs140750390
NM_000373.3(UMPS):c.*3193T>C rs886057889
NM_000373.3(UMPS):c.*3258A>C rs886057890
NM_000373.3(UMPS):c.*3264G>A rs190423326
NM_000373.3(UMPS):c.*3359G>T rs752390899
NM_000373.3(UMPS):c.*3367C>A rs768556841
NM_000373.3(UMPS):c.*3374C>G rs143276999
NM_000373.3(UMPS):c.*3447T>C rs764528076
NM_000373.3(UMPS):c.*3495T>C rs886057891
NM_000373.3(UMPS):c.*3598C>G rs886057892
NM_000373.3(UMPS):c.*3701C>T rs768769772
NM_000373.3(UMPS):c.*4016T>C rs77601301
NM_000373.3(UMPS):c.*4018_*4022delATATA rs541152211
NM_000373.3(UMPS):c.*4065C>T rs759188574
NM_000373.3(UMPS):c.*4078T>C rs13315593
NM_000373.3(UMPS):c.*4116G>A rs886057894
NM_000373.3(UMPS):c.*4178A>G rs758463509
NM_000373.3(UMPS):c.*4215C>T rs780219461
NM_000373.3(UMPS):c.*4231A>G rs886057895
NM_000373.3(UMPS):c.*4263T>C rs558675693
NM_000373.3(UMPS):c.*4344T>C rs180944864
NM_000373.3(UMPS):c.*4496G>A rs886057896
NM_000373.3(UMPS):c.*4511G>A rs569255721
NM_000373.3(UMPS):c.*4755G>A rs189776179
NM_000373.3(UMPS):c.*4765_*4767delCCT rs886057897
NM_000373.3(UMPS):c.*4862A>G rs886057898
NM_000373.3(UMPS):c.*4876C>G rs192036374
NM_000373.3(UMPS):c.*4883C>T rs148029686
NM_000373.3(UMPS):c.*4895A>G rs142288742
NM_000373.3(UMPS):c.*5014C>T rs569469184
NM_000373.3(UMPS):c.*5027A>G rs886057899
NM_000373.3(UMPS):c.*5120_*5124delGAGTT rs556352266
NM_000373.3(UMPS):c.*5133delT rs886057901
NM_000373.3(UMPS):c.*691C>G rs886057872
NM_000373.3(UMPS):c.*814C>T rs763914466
NM_000373.3(UMPS):c.*868delT rs570945751
NM_000373.3(UMPS):c.-19A>G rs747117815
NM_000373.3(UMPS):c.1157C>T (p.Ala386Val) rs202158549
NM_000373.3(UMPS):c.1273+14C>T rs374339942
NM_000373.3(UMPS):c.1374T>C (p.Asp458=) rs200608473
NM_000373.3(UMPS):c.18A>G (p.Ala6=) rs141501397
NM_000373.3(UMPS):c.21T>C (p.Ala7=) rs17843775
NM_000373.3(UMPS):c.441T>C (p.Thr147=) rs886057871
NM_000373.3(UMPS):c.827G>A (p.Ser276Asn) rs140804035
NM_000373.3(UMPS):c.857T>A (p.Ile286Asn) rs200305064
NM_000373.3(UMPS):c.953T>C (p.Ile318Thr) rs375535366
NM_000373.4(UMPS):c.385G>T (p.Gly129Ter)

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