ClinVar Miner

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

Included ClinVar conditions (19):
Minimum submission review status: Collection method:
Minimum conflict level:
Gene type:
ClinVar version:
Total variants: 7
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HGVS dbSNP
NM_000975.5(RPL11):c.-14T>C rs886046307
NM_000975.5(RPL11):c.102G>A (p.Thr34=) rs199772693
NM_000975.5(RPL11):c.158-7C>T rs768654673
NM_000975.5(RPL11):c.270G>A (p.Arg90=) rs886046308
NM_000975.5(RPL11):c.306T>C (p.Thr102=) rs886046309
NM_000975.5(RPL11):c.4G>T (p.Ala2Ser) rs1553121574
NM_000975.5(RPL11):c.5C>T (p.Ala2Val)

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