ClinVar Miner

List of variants reported as pathogenic for Intellectual disability-severe speech delay-mild dysmorphism syndrome by Department of Genetics, Rouen University Hospital, Normandy Center for Genomic and Personalized Medicine

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Total variants: 2

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HGVS	dbSNP	gnomAD frequency
NM_001349338.3(FOXP1):c.1146+1G>A	rs1559650552
NM_001349338.3(FOXP1):c.1653-1G>A	rs1575741313

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