ClinVar Miner

List of variants reported as pathogenic for Diamond-Blackfan anemia 6 by OMIM

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Total variants: 8
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NM_000969.5(RPL5):c.173_174GA[1] (p.Asp59fs)
NM_000969.5(RPL5):c.235dup (p.Tyr79fs)
NM_000969.5(RPL5):c.244G>T (p.Glu82Ter) rs587777117
NM_000969.5(RPL5):c.418G>A (p.Gly140Ser) rs121434406
NM_000969.5(RPL5):c.664C>T (p.Gln222Ter) rs587777118
NM_000969.5(RPL5):c.67C>T (p.Arg23Ter) rs121434405
RPL5, 5-BP DEL/39-BP INS, NT498

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