ClinVar Miner

List of variants studied for Cognitive impairment - coarse facies - heart defects - obesity - pulmonary involvement - short stature - skeletal dysplasia syndrome by Equipe Genetique des Anomalies du Developpement, Université de Bourgogne

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Total variants: 3
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HGVS dbSNP gnomAD frequency
NM_014423.4(AFF4):c.758C>T (p.Pro253Leu) rs2532575070
NM_014423.4(AFF4):c.761C>G (p.Thr254Ser) rs786205679
NM_014423.4(AFF4):c.772C>T (p.Arg258Trp) rs786205680

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