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

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Gene type: Distinguish antisense genes from sense genes
Show significances as they were submitted (without aggregation into standard terms)
		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)
NM_000975.5(RPL11):c.508-1G>A
NM_000975.5(RPL11):c.508-9_508-5del

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