ClinVar Miner

List of variants in gene UROS studied for anemia (disease)

Included ClinVar conditions (258):
Minimum submission review status: Collection method:
Minimum conflict level:
Gene type:
ClinVar version:
Total variants: 41
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HGVS dbSNP
NM_000375.2(UROS):c.*178G>A rs569628154
NM_000375.2(UROS):c.*24A>G rs760003189
NM_000375.2(UROS):c.*37G>T rs372132511
NM_000375.2(UROS):c.*99A>G rs886046814
NM_000375.2(UROS):c.-136C>T rs539482783
NM_000375.2(UROS):c.-185G>A rs4256900
NM_000375.2(UROS):c.-219C>A rs4385801
NM_000375.2(UROS):c.-232G>A rs886046815
NM_000375.2(UROS):c.-26-183G>A rs397515349
NM_000375.2(UROS):c.-26-193C>A rs397515350
NM_000375.2(UROS):c.-27+10G>A rs376517536
NM_000375.2(UROS):c.-31G>T rs73381212
NM_000375.2(UROS):c.10C>T (p.Leu4Phe) rs121908015
NM_000375.2(UROS):c.139T>C (p.Ser47Pro) rs397515527
NM_000375.2(UROS):c.148_244del (p.Leu50Serfs)
NM_000375.2(UROS):c.158C>T (p.Pro53Leu) rs121908013
NM_000375.2(UROS):c.184A>G (p.Thr62Ala) rs28941775
NM_000375.2(UROS):c.197C>T (p.Ala66Val) rs28941774
NM_000375.2(UROS):c.1_63del rs373864821
NM_000375.2(UROS):c.217T>C (p.Cys73Arg) rs121908012
NM_000375.2(UROS):c.243A>T (p.Glu81Asp) rs121908018
NM_000375.2(UROS):c.244G>T (p.Val82Phe) rs121908016
NM_000375.2(UROS):c.251A>C (p.Glu84Ala) rs763606042
NM_000375.2(UROS):c.27G>A (p.Ala9=) rs150059279
NM_000375.2(UROS):c.311C>T (p.Ala104Val) rs397515528
NM_000375.2(UROS):c.327A>C (p.Lys109Asn) rs369561042
NM_000375.2(UROS):c.338A>T (p.Asp113Val) rs117926090
NM_000375.2(UROS):c.475+14T>A rs17425877
NM_000375.2(UROS):c.512T>C (p.Val171Ala) rs17173752
NM_000375.2(UROS):c.512T>G (p.Val171Gly) rs17173752
NM_000375.2(UROS):c.562G>A (p.Gly188Arg) rs121908017
NM_000375.2(UROS):c.562G>T (p.Gly188Trp) rs121908017
NM_000375.2(UROS):c.673G>A (p.Gly225Ser) rs121908020
NM_000375.2(UROS):c.683C>T (p.Thr228Met) rs121908014
NM_000375.2(UROS):c.691G>A (p.Ala231Thr) rs780837512
NM_000375.2(UROS):c.743C>A (p.Pro248Gln) rs121908021
NM_001324036.1(UROS):c.-26-177T>C rs397515348
NM_001324036.1(UROS):c.-26-197C>A rs397515351
NM_001324036.1(UROS):c.397dup (p.Glu133Glyfs) rs796051859
UROS, 80-BP INS
UROS, IVS9, T-G, -31

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