ClinVar Miner

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

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Total variants: 25
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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.134G>A (p.Cys45Tyr) rs132630299
NM_001015877.2(PHF6):c.139-8A>G rs771399346
NM_001015877.2(PHF6):c.22A>T (p.Lys8Ter) rs132630301
NM_001015877.2(PHF6):c.255C>A (p.Cys85Ter) rs1114167289
NM_001015877.2(PHF6):c.27dup (p.Gly10fs) rs758791658
NM_001015877.2(PHF6):c.296G>T (p.Cys99Phe) rs132630298
NM_001015877.2(PHF6):c.29_30dup (p.Pro11fs) rs1556013203
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.415G>T (p.Glu139Ter) rs770811341
NM_001015877.2(PHF6):c.417A>T (p.Glu139Asp)
NM_001015877.2(PHF6):c.418G>A (p.Ala140Thr) rs864309532
NM_001015877.2(PHF6):c.585+1G>A rs2077460481
NM_001015877.2(PHF6):c.673C>T (p.Arg225Ter) rs1556018932
NM_001015877.2(PHF6):c.686A>G (p.His229Arg) rs104894918
NM_001015877.2(PHF6):c.700A>G (p.Lys234Glu) rs104894917
NM_001015877.2(PHF6):c.743G>T (p.Gly248Val)
NM_001015877.2(PHF6):c.769A>G (p.Arg257Gly) rs104894919
NM_001015877.2(PHF6):c.820C>T (p.Arg274Ter) rs1556019107
NM_001015877.2(PHF6):c.829del (p.Arg277fs) rs2077467552
NM_001015877.2(PHF6):c.890G>T (p.Cys297Phe)
NM_001015877.2(PHF6):c.914G>T (p.Cys305Phe) rs587777489

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