ClinVar Miner

List of variants studied for chromosomal disorder by Laboratorio de Inmunogenómica y enfermedades metabólicas, Instituto Nacional de Medicina Genómica, Instituto Nacional de Medicina Genómica

Included ClinVar conditions (200):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
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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