ClinVar Miner

List of variants in gene RPL5 reported as pathogenic for Diamond-Blackfan anemia

Included ClinVar conditions (19):
Minimum submission review status: Collection method:
Minimum conflict level:
Gene type:
ClinVar version:
Total variants: 4
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HGVS dbSNP
RPL5, 1-BP INS, 235T
RPL5, 2-BP DEL, 173GA
RPL5, 5-BP DEL/39-BP INS, NT498
RPL5, IVS2DS, T-G, +2

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