ClinVar Miner

List of variants in gene UROS reported as pathogenic for anemia (disease)

Included ClinVar conditions (262):
Minimum submission review status: Collection method:
Minimum conflict level:
Gene type:
ClinVar version:
Total variants: 24
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NM_000375.2(UROS):c.148_244del (p.Leu50Serfs)
NM_000375.3(UROS):c.-203T>C rs397515348
NM_000375.3(UROS):c.-219C>A rs4385801
NM_000375.3(UROS):c.-26-183G>A rs397515349
NM_000375.3(UROS):c.-26-193C>A rs397515350
NM_000375.3(UROS):c.-26-197C>A rs397515351
NM_000375.3(UROS):c.10C>T (p.Leu4Phe) rs121908015
NM_000375.3(UROS):c.139T>C (p.Ser47Pro) rs397515527
NM_000375.3(UROS):c.158C>T (p.Pro53Leu) rs121908013
NM_000375.3(UROS):c.184A>G (p.Thr62Ala) rs28941775
NM_000375.3(UROS):c.197C>T (p.Ala66Val) rs28941774
NM_000375.3(UROS):c.217T>C (p.Cys73Arg) rs121908012
NM_000375.3(UROS):c.243A>T (p.Glu81Asp) rs121908018
NM_000375.3(UROS):c.244G>T (p.Val82Phe) rs121908016
NM_000375.3(UROS):c.311C>T (p.Ala104Val) rs397515528
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.63+1G>A rs373864821
NM_000375.3(UROS):c.673G>A (p.Gly225Ser) rs121908020
NM_000375.3(UROS):c.683C>T (p.Thr228Met) rs121908014
NM_000375.3(UROS):c.743C>A (p.Pro248Gln) rs121908021
UROS, IVS9, T-G, -31

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