ClinVar Miner

List of variants in gene RPS26 reported as pathogenic for Diamond-Blackfan anemia

Included ClinVar conditions (19):
Minimum submission review status: Collection method:
Minimum conflict level:
Gene type:
ClinVar version:
Total variants: 8
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HGVS dbSNP
NM_001029.5(RPS26):c.1A>G (p.Met1Val) rs143951267
NM_001029.5(RPS26):c.1A>T (p.Met1Leu) rs143951267
NM_001029.5(RPS26):c.259C>T (p.Arg87Ter) rs148942765
NM_001029.5(RPS26):c.3+1G>A rs148622862
NM_001029.5(RPS26):c.31dup (p.Ala11fs) rs786200892
NM_001029.5(RPS26):c.4-2A>T rs786203998
NM_001029.5(RPS26):c.55C>T (p.Gln19Ter) rs797045919
NM_001029.5(RPS26):c.97G>A (p.Asp33Asn) rs267607023

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