ClinVar Miner

List of variants studied for Borjeson-Forssman-Lehmann syndrome by Baylor Genetics

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Total variants: 3
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HGVS dbSNP gnomAD frequency
NM_001015877.2(PHF6):c.688A>G (p.Ile230Val) rs794727879 0.00002
NM_001015877.2(PHF6):c.947A>T (p.Asn316Ile) rs2520644764
NM_001015877.2(PHF6):c.969-6T>G rs2077504087

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