List of variants in gene UMPS reported as pathogenic for anemia

Minimum submission review status:		Collection method:
Minimum conflict level: Report conflict between different conditions
Gene type: Distinguish antisense genes from sense genes
Show significances as they were submitted (without aggregation into standard terms)
		ClinVar version:

Total variants: 5

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HGVS	dbSNP	gnomAD frequency
NM_000373.4(UMPS):c.385G>T (p.Gly129Ter)	rs747405574	0.00002
NM_000373.3(UMPS):c.[286A>G;285G>C]
NM_000373.4(UMPS):c.1213C>T (p.Arg405Ter)
NM_000373.4(UMPS):c.188del (p.Asn63fs)
NM_000373.4(UMPS):c.326T>G (p.Val109Gly)	rs121917892

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