ClinVar Miner

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

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Total variants: 11
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HGVS dbSNP gnomAD frequency
NM_000975.5(RPL11):c.339C>T (p.Ile113=) rs8880 0.02525
NM_000975.5(RPL11):c.158-18G>C rs115017937 0.00330
NM_000975.5(RPL11):c.7-20G>T rs142110379 0.00180
NM_000975.5(RPL11):c.30C>T (p.Asn10=) rs139286202 0.00076
NM_000975.5(RPL11):c.396+9A>G rs201786327 0.00058
NM_000975.5(RPL11):c.153C>T (p.Ser51=) rs80133698 0.00025
NM_000975.5(RPL11):c.213C>T (p.His71=) rs562572818 0.00016
NM_000975.5(RPL11):c.51C>T (p.Ile17=) rs766157130 0.00005
NM_000975.5(RPL11):c.102G>C (p.Thr34=) rs199772693
NM_000975.5(RPL11):c.265-9dup
NM_000975.5(RPL11):c.396+20del

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