ClinVar Miner

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

Included ClinVar conditions (19):
Minimum submission review status: Collection method:
Minimum conflict level:
Gene type:
ClinVar version:
Total variants: 8
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HGVS dbSNP
NM_000975.5(RPL11):c.*52A>G rs60606712
NM_000975.5(RPL11):c.153C>T (p.Ser51=) rs80133698
NM_000975.5(RPL11):c.24G>A (p.Lys8=) rs143617222
NM_000975.5(RPL11):c.258T>G (p.Gly86=) rs760885169
NM_000975.5(RPL11):c.300A>G (p.Ser100=) rs372622822
NM_000975.5(RPL11):c.30C>T (p.Asn10=) rs139286202
NM_000975.5(RPL11):c.339C>T (p.Ile113=) rs8880
NM_000975.5(RPL11):c.397-4A>G rs371228733

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