ClinVar Miner

List of variants in gene RPS26 reported as pathogenic for Diamond-Blackfan anemia 15 with mandibulofacial dysostosis

Included ClinVar conditions (1):
Minimum submission review status: Collection method:
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Gene type:
ClinVar version:
Total variants: 2
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HGVS dbSNP
NM_001029.5(RPS26):c.259C>T (p.Arg87Ter) rs148942765
NM_001029.5(RPS26):c.4-2A>T rs786203998

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