ClinVar Miner

List of variants reported as pathogenic for Mosaic variegated aneuploidy syndrome 1 by Laboratorio de Inmunogenómica y enfermedades metabólicas, Instituto Nacional de Medicina Genómica, Instituto Nacional de Medicina Genómica

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Total variants: 1
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HGVS dbSNP gnomAD frequency
NM_014679.5(CEP57):c.915_925dup (p.Leu309fs) rs1166323407

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