ClinVar Miner

List of variants in gene RPL5 reported as uncertain significance for Diamond-Blackfan anemia 6

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Gene type:
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Total variants: 6
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HGVS dbSNP gnomAD frequency
NM_000969.5(RPL5):c.-2G>A rs886046558
NM_000969.5(RPL5):c.-46C>G rs376208311
NM_000969.5(RPL5):c.-64C>G rs1006135937
NM_000969.5(RPL5):c.-70T>A rs551112484
NM_000969.5(RPL5):c.-74C>A rs752282235
NM_000969.5(RPL5):c.3+11G>C rs376414614

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