ClinVar Miner

List of variants in gene RPL11 studied for Diamond-Blackfan anemia 7

Included ClinVar conditions (1):
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Total variants: 7
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NM_000975.4(RPL11):c.204delT (p.Ile68Metfs) rs587777120
NM_000975.4(RPL11):c.42_48delACTTCGC (p.Leu15Serfs) rs1553121678
NM_000975.4(RPL11):c.476_477delAA (p.Lys159Argfs) rs587777119
NM_000975.5(RPL11):c.223C>T (p.Arg75Ter) rs121434389
RPL11, 2-BP DEL, 60CT
RPL11, 3-BP DEL, 482AGG
RPL11, IVS2AS, G-A, -1

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