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
NC_000023.10:g.(?_133511648)_(133559360_?)del
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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