ClinVar Miner

List of variants reported as pathogenic for Borjeson-Forssman-Lehmann syndrome by Institute of Pediatric Research, Xinhua Hospital affiliated to Shanghai Jiao Tong University School of Medicine

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Total variants: 1
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HGVS dbSNP gnomAD frequency
NM_001015877.2(PHF6):c.673C>T (p.Arg225Ter) rs1556018932

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