ClinVar Miner

List of variants in gene combination RPS10, RPS10-NUDT3 reported as pathogenic for Diamond-Blackfan anemia

Included ClinVar conditions (22):
Minimum submission review status: Collection method:
Minimum conflict level:
Gene type:
ClinVar version:
Total variants: 4
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NM_001014.5(RPS10):c.260dup (p.Glu88fs) rs1581931541
NM_001014.5(RPS10):c.285_292del (p.Arg96fs) rs1581931439
NM_001014.5(RPS10):c.337C>T (p.Arg113Ter) rs267607022
NM_001014.5(RPS10):c.3G>A (p.Met1Ile) rs267607021

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