ClinVar Miner

List of variants in gene RPL11 reported as pathogenic for Diamond-Blackfan anemia

Included ClinVar conditions (19):
Minimum submission review status: Collection method:
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Gene type:
ClinVar version:
Total variants: 12
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HGVS dbSNP
NC_000001.10:g.(?_24018304)_(24022873_?)del
NC_000001.10:g.(?_24022278)_(24022873_?)del
NM_000975.5(RPL11):c.111del (p.Lys38fs) rs1553121684
NM_000975.5(RPL11):c.158-1G>A
NM_000975.5(RPL11):c.204del (p.Ile68fs) rs587777120
NM_000975.5(RPL11):c.223C>T (p.Arg75Ter) rs121434389
NM_000975.5(RPL11):c.43_49del (p.Leu15fs) rs1553121678
NM_000975.5(RPL11):c.476_477del (p.Lys159fs) rs587777119
NM_000975.5(RPL11):c.479_481AGG[1] (p.Glu161del)
NM_000975.5(RPL11):c.508-2A>G
NM_000975.5(RPL11):c.58_59CT[1] (p.Cys21fs)
NM_000975.5(RPL11):c.62_63del (p.Cys21fs)

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