ClinVar Miner

List of variants in gene UROS reported as uncertain significance 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: 21
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HGVS dbSNP gnomAD frequency
NM_000375.3(UROS):c.63+8G>A rs17153575 0.00410
NM_000375.3(UROS):c.475+14T>A rs17425877 0.00091
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.-232G>A rs886046815 0.00006
NM_000375.3(UROS):c.683C>T (p.Thr228Met) rs121908014 0.00004
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.169G>A (p.Gly57Arg) rs200322717 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.-195C>A rs1227442865
NM_000375.3(UROS):c.-224C>T rs1854170338
NM_000375.3(UROS):c.251A>C (p.Glu84Ala) rs763606042
NM_000375.3(UROS):c.512T>C (p.Val171Ala) rs17173752
NM_000375.3(UROS):c.660+4del

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