ClinVar Miner

List of variants in gene RPL11 reported as likely pathogenic for aplastic anemia

Included ClinVar conditions (110):
Minimum submission review status: Collection method:
Minimum conflict level:
Gene type:
ClinVar version:
Total variants: 9
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HGVS dbSNP gnomAD frequency
NM_000975.5(RPL11):c.136_157+26del rs2124429146
NM_000975.5(RPL11):c.264+1G>A rs1553121795
NM_000975.5(RPL11):c.265-2A>G rs2124430919
NM_000975.5(RPL11):c.296_298del (p.Phe99del) rs1553121852
NM_000975.5(RPL11):c.397-2A>G rs2124432051
NM_000975.5(RPL11):c.465_466del (p.His155fs) rs1644530053
NM_000975.5(RPL11):c.465_475dup (p.Lys159fs) rs2523403053
NM_000975.5(RPL11):c.508-1G>A rs2523404237
NM_000975.5(RPL11):c.508-9_508-5del rs2523404169

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