ClinVar Miner

List of variants studied for Diamond-Blackfan anemia 7 by OMIM

Included ClinVar conditions (1):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 6
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NM_000975.5(RPL11):c.158-1G>A rs151155897
NM_000975.5(RPL11):c.204del (p.Ile68fs) rs587777120
NM_000975.5(RPL11):c.223C>T (p.Arg75Ter) rs121434389
NM_000975.5(RPL11):c.476_477del (p.Lys159fs) rs587777119
NM_000975.5(RPL11):c.479_481AGG[1] (p.Glu161del) rs1570569083
NM_000975.5(RPL11):c.58_59CT[1] (p.Cys21fs) rs1570566590

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