ClinVar Miner

List of variants in gene UROS studied for anemia due to erythrocyte enzyme disorder

Included ClinVar conditions (15):
Minimum submission review status: Collection method:
Minimum conflict level:
Gene type:
ClinVar version:
Total variants: 57
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HGVS dbSNP gnomAD frequency
NM_000375.3(UROS):c.561+19C>T rs2281954 0.43234
NM_000375.3(UROS):c.562-26C>T rs3740179 0.43206
NM_000375.3(UROS):c.-219C>A rs4385801 0.41780
NM_000375.3(UROS):c.-185G>A rs4256900 0.41165
NM_000375.3(UROS):c.-31G>T rs73381212 0.01190
NM_000375.3(UROS):c.*37G>T rs372132511 0.00489
NM_000375.3(UROS):c.63+8G>A rs17153575 0.00410
NM_000375.3(UROS):c.338A>T (p.Asp113Val) rs117926090 0.00376
NM_000375.3(UROS):c.27G>A (p.Ala9=) rs150059279 0.00225
NM_000375.3(UROS):c.-136C>T rs539482783 0.00096
NM_000375.3(UROS):c.475+14T>A rs17425877 0.00091
NM_000375.3(UROS):c.*96G>A rs182303293 0.00048
NM_000375.3(UROS):c.*178G>A rs569628154 0.00041
NM_000375.3(UROS):c.*99A>G rs886046814 0.00032
NM_000375.3(UROS):c.106T>G (p.Leu36Val) rs200858139 0.00028
NM_000375.3(UROS):c.740C>T (p.Thr247Met) rs199925121 0.00024
NM_000375.3(UROS):c.217T>C (p.Cys73Arg) rs121908012 0.00022
NM_000375.3(UROS):c.-232G>A rs886046815 0.00006
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.*24A>G rs760003189 0.00002
NM_000375.3(UROS):c.-134C>A rs985442867 0.00002
NM_000375.3(UROS):c.691G>A (p.Ala231Thr) rs780837512 0.00002
NM_000375.3(UROS):c.*56T>C rs1436191296 0.00001
NM_000375.3(UROS):c.*92T>G rs887568142 0.00001
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.-27+10G>A rs376517536 0.00001
NM_000375.3(UROS):c.169G>A (p.Gly57Arg) rs200322717 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
NM_000375.3(UROS):c.327A>C (p.Lys109Asn) rs369561042 0.00001
NM_000375.3(UROS):c.53C>T (p.Pro18Leu) rs766540245 0.00001
NM_000375.3(UROS):c.7G>T (p.Val3Phe) rs773301339 0.00001
NC_000010.11:g.125815036_125815132del rs2133941461
NM_000375.3(UROS):c.-195C>A rs1227442865
NM_000375.3(UROS):c.-224C>T rs1854170338
NM_000375.3(UROS):c.-26-183G>A rs397515349
NM_000375.3(UROS):c.-26-197C>A rs397515351
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.197C>T (p.Ala66Val) rs28941774
NM_000375.3(UROS):c.243A>T (p.Glu81Asp) rs121908018
NM_000375.3(UROS):c.251A>C (p.Glu84Ala) rs763606042
NM_000375.3(UROS):c.311C>T (p.Ala104Val) rs397515528
NM_000375.3(UROS):c.395-1dup rs796051859
NM_000375.3(UROS):c.512T>C (p.Val171Ala) rs17173752
NM_000375.3(UROS):c.512T>G (p.Val171Gly) rs17173752
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.660+4del
NM_000375.3(UROS):c.743C>A (p.Pro248Gln) rs121908021
UROS, 80-BP INS

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