ClinVar Miner

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

Included ClinVar conditions (281):
Minimum submission review status: Collection method:
Minimum conflict level:
Gene type:
ClinVar version:
Total variants: 20
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HGVS dbSNP
NM_000373.4(UMPS):c.*1155T>C rs112368493
NM_000373.4(UMPS):c.*1349G>A rs138112683
NM_000373.4(UMPS):c.*2202del rs397844102
NM_000373.4(UMPS):c.*2412_*2414GAA[1] rs369976877
NM_000373.4(UMPS):c.*2884A>G rs139426908
NM_000373.4(UMPS):c.*2901G>C rs144492816
NM_000373.4(UMPS):c.*3065C>T rs116880739
NM_000373.4(UMPS):c.*3130C>T rs374728245
NM_000373.4(UMPS):c.*3264G>A rs190423326
NM_000373.4(UMPS):c.*348C>T
NM_000373.4(UMPS):c.*3494G>A
NM_000373.4(UMPS):c.*3732C>T rs111966656
NM_000373.4(UMPS):c.*4016T>C rs77601301
NM_000373.4(UMPS):c.*4078T>C rs13315593
NM_000373.4(UMPS):c.*4876C>G rs192036374
NM_000373.4(UMPS):c.*56del rs3836305
NM_000373.4(UMPS):c.1374T>C (p.Asp458=) rs200608473
NM_000373.4(UMPS):c.18A>G (p.Ala6=) rs141501397
NM_000373.4(UMPS):c.21T>C (p.Ala7=) rs17843775
NM_000373.4(UMPS):c.88A>G (p.Ser30Gly) rs17843776

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