ClinVar Miner

List of variants reported as pathogenic for Borjeson-Forssman-Lehmann syndrome by Invitae

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Total variants: 7
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HGVS dbSNP gnomAD frequency
NM_001015877.2(PHF6):c.1024C>T (p.Arg342Ter) rs132630297
NM_001015877.2(PHF6):c.2T>C (p.Met1Thr) rs132630300
NM_001015877.2(PHF6):c.346C>T (p.Arg116Ter)
NM_001015877.2(PHF6):c.385C>T (p.Arg129Ter)
NM_001015877.2(PHF6):c.820C>T (p.Arg274Ter) rs1556019107
NM_001015877.2(PHF6):c.829del (p.Arg277fs) rs2077467552

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