ClinVar Miner

List of variants reported as pathogenic for Neurodevelopmental disorder with dysmorphic facies and distal limb anomalies; Intellectual developmental disorder, autosomal recessive 67 by Institute of Medical Genetics and Applied Genomics, University Hospital Tübingen

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Total variants: 1

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HGVS	dbSNP	gnomAD frequency
NM_003754.3(EIF3F):c.694T>G (p.Phe232Val)	rs141976414	0.00080

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