ClinVar Miner

List of variants reported as likely pathogenic for Spondylocostal dysostosis 1, autosomal recessive by Equipe Genetique des Anomalies du Developpement, Université de Bourgogne

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Total variants: 1
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HGVS dbSNP gnomAD frequency
NM_203486.3(DLL3):c.534C>A (p.Cys178Ter) rs1447189148

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