List of variants in gene UROS reported as pathogenic for hematologic disorder

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: 22

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HGVS	dbSNP	gnomAD frequency
NM_000375.3(UROS):c.217T>C (p.Cys73Arg)	rs121908012	0.00022
NM_000375.3(UROS):c.63+1G>A	rs373864821	0.00006
NM_000375.3(UROS):c.673G>A (p.Gly225Ser)	rs121908020	0.00006
NM_000375.3(UROS):c.683C>T (p.Thr228Met)	rs121908014	0.00004
NM_000375.3(UROS):c.10C>T (p.Leu4Phe)	rs121908015	0.00003
NM_000375.3(UROS):c.661-31T>G	rs750180293	0.00003
NM_000375.3(UROS):c.-203T>C	rs1554891988	0.00001
NM_000375.3(UROS):c.-26-193C>A	rs397515350	0.00001
NM_000375.3(UROS):c.184A>G (p.Thr62Ala)	rs28941775	0.00001
NM_000375.3(UROS):c.244G>T (p.Val82Phe)	rs121908016	0.00001
NC_000010.11:g.125815036_125815132del	rs2133941461
NM_000375.3(UROS):c.-26-183G>A	rs397515349
NM_000375.3(UROS):c.-26-197C>A	rs397515351
NM_000375.3(UROS):c.158C>T (p.Pro53Leu)	rs121908013
NM_000375.3(UROS):c.197C>T (p.Ala66Val)	rs28941774
NM_000375.3(UROS):c.243A>T (p.Glu81Asp)	rs121908018
NM_000375.3(UROS):c.395-1dup	rs796051859
NM_000375.3(UROS):c.562G>A (p.Gly188Arg)	rs121908017
NM_000375.3(UROS):c.562G>T (p.Gly188Trp)	rs121908017
NM_000375.3(UROS):c.56A>G (p.Tyr19Cys)	rs1590007244
NM_000375.3(UROS):c.743C>A (p.Pro248Gln)	rs121908021
UROS, 80-BP INS

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