ClinVar Miner

List of variants reported as likely pathogenic for Growth and mental retardation, mandibulofacial dysostosis, microcephaly, and cleft palate

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Total variants: 2
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HGVS dbSNP
NM_004247.3(EFTUD2):c.2045+2T>G rs863224868
NM_004247.3(EFTUD2):c.2551delG (p.Ala851Profs) rs1555564126

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