ClinVar Miner

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

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Total variants: 4
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NM_001029.5(RPS26):c.259C>T (p.Arg87Ter) rs148942765
NM_001029.5(RPS26):c.4-2A>T rs786203998
NM_001031.5(RPS28):c.1A>G (p.Met1Val) rs786203997
NM_058163.3(TSR2):c.191A>G (p.Glu64Gly) rs786203996

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