ClinVar Miner

List of variants studied for Borjeson-Forssman-Lehmann 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_001015877.2(PHF6):c.1024C>T (p.Arg342Ter) rs132630297
NM_001015877.2(PHF6):c.139-2A>G rs2520470293
NM_001015877.2(PHF6):c.2T>C (p.Met1Thr) rs132630300

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