ClinVar Miner

List of variants in gene RPS19 reported as pathogenic for Diamond-Blackfan anemia

Included ClinVar conditions (18):
Minimum submission review status: Collection method:
Minimum conflict level:
Gene type:
ClinVar version:
Total variants: 13
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HGVS dbSNP
NC_000019.9:g.42364612_42369681del5070
NM_001022.3(RPS19):c.184C>T (p.Arg62Trp) rs104894711
NM_001022.3(RPS19):c.185G>A (p.Arg62Gln) rs1555841301
NM_001022.3(RPS19):c.250A>T (p.Arg84Ter) rs121908649
NM_001022.3(RPS19):c.280C>T (p.Arg94Ter) rs61762293
NM_001022.3(RPS19):c.296_297dup (p.Ala100Trpfs) rs1555841356
NM_001022.3(RPS19):c.307del (p.Val103Serfs) rs786200935
NM_001022.3(RPS19):c.367_368dup (p.Thr124Terfs)
NM_001022.3(RPS19):c.380G>A (p.Gly127Glu) rs786200936
NM_001022.3(RPS19):c.384_385delAA (p.Asp130Serfs)
NM_001022.3(RPS19):c.98G>A (p.Trp33Ter) rs104894716
NM_001022.3(RPS19):c.[43G>T;164C>T]
RPS19, LEU45GLN AND 2-BP INS, 160CT

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