ClinVar Miner

List of variants in gene RPL11 reported as pathogenic for Diamond-Blackfan anemia 1

Included ClinVar conditions (3):
Minimum submission review status: Collection method:
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Gene type:
ClinVar version:
Total variants: 23
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HGVS dbSNP gnomAD frequency
NC_000001.10:g.(?_24021140)_(24022863_?)del
NC_000001.11:g.(?_23691824)_(23696373_?)del
NC_000001.11:g.(?_23695788)_(23696383_?)del
NM_000975.5(RPL11):c.100dup (p.Thr34fs)
NM_000975.5(RPL11):c.102dup (p.Arg35fs)
NM_000975.5(RPL11):c.107del (p.Ala36fs) rs2124429127
NM_000975.5(RPL11):c.111del (p.Lys38fs) rs1553121684
NM_000975.5(RPL11):c.121G>T (p.Glu41Ter) rs2124429140
NM_000975.5(RPL11):c.151dup (p.Ser51fs) rs2124429183
NM_000975.5(RPL11):c.158-1G>A rs151155897
NM_000975.5(RPL11):c.158-1G>C
NM_000975.5(RPL11):c.158-2A>C
NM_000975.5(RPL11):c.160dup (p.Arg54fs) rs1644516691
NM_000975.5(RPL11):c.223C>T (p.Arg75Ter) rs121434389
NM_000975.5(RPL11):c.298_299del (p.Ser100fs)
NM_000975.5(RPL11):c.301_302del (p.Asp101fs)
NM_000975.5(RPL11):c.311del (p.Asn104fs)
NM_000975.5(RPL11):c.328C>T (p.Gln110Ter)
NM_000975.5(RPL11):c.33del (p.Met12fs)
NM_000975.5(RPL11):c.508-2A>G rs1570569383
NM_000975.5(RPL11):c.60_61del (p.Cys21fs) rs1570566590
NM_000975.5(RPL11):c.62_63del (p.Cys21fs) rs1570566592
NM_000975.5(RPL11):c.96_109del (p.Arg32fs)

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