ClinVar Miner

List of variants in gene UMPS reported as likely benign for anemia (disease)

Included ClinVar conditions (258):
Minimum submission review status: Collection method:
Minimum conflict level:
Gene type:
ClinVar version:
Total variants: 25
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HGVS dbSNP
NM_000373.3(UMPS):c.*1319G>A rs821375
NM_000373.3(UMPS):c.*1326C>A rs2242249
NM_000373.3(UMPS):c.*2202delC rs397844102
NM_000373.3(UMPS):c.*2415_*2417delGAA rs369976877
NM_000373.3(UMPS):c.*2884A>G rs139426908
NM_000373.3(UMPS):c.*28A>G rs3772810
NM_000373.3(UMPS):c.*2901G>C rs144492816
NM_000373.3(UMPS):c.*3376C>T rs76151694
NM_000373.3(UMPS):c.*3414A>G rs115977637
NM_000373.3(UMPS):c.*3537G>A rs606369
NM_000373.3(UMPS):c.*3732C>T rs111966656
NM_000373.3(UMPS):c.*4252G>T rs117707217
NM_000373.3(UMPS):c.*4430C>T rs591963
NM_000373.3(UMPS):c.*4485G>T rs591896
NM_000373.3(UMPS):c.*4486G>A rs591886
NM_000373.3(UMPS):c.*4717C>T rs117624716
NM_000373.3(UMPS):c.*4906G>C rs702039
NM_000373.3(UMPS):c.*526A>G rs2242246
NM_000373.3(UMPS):c.*56delT rs3836305
NM_000373.3(UMPS):c.*983C>T rs11706036
NM_000373.3(UMPS):c.*993A>T rs74704429
NM_000373.3(UMPS):c.1038A>G (p.Pro346=) rs17843835
NM_000373.3(UMPS):c.1050T>A (p.Val350=) rs2291078
NM_000373.3(UMPS):c.1336A>G (p.Ile446Val) rs3772809
NM_000373.3(UMPS):c.88A>G (p.Ser30Gly) rs17843776

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