ClinVar Miner

List of variants reported as likely pathogenic for Diamond-Blackfan anemia

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Total variants: 7
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NM_000969.5(RPL5):c.326T>C (p.Leu109Pro) rs878854146
NM_000969.5(RPL5):c.4-7_4-4del rs1558283792
NM_000975.5(RPL11):c.264+1G>A rs1553121795
NM_001022.4(RPS19):c.382C>T (p.Gln128Ter) rs1060503688
NM_001022.4(RPS19):c.72-1G>A rs146366047

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