ClinVar Miner

List of variants in gene UROS reported as benign 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: 8
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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.*37G>T rs372132511 0.00489
NM_000375.3(UROS):c.338A>T (p.Asp113Val) rs117926090 0.00376
NM_000375.3(UROS):c.-136C>T rs539482783 0.00096
NM_000375.3(UROS):c.512T>G (p.Val171Gly) rs17173752

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