ClinVar Miner

List of variants in gene PHF6 studied for X-linked disease

Included ClinVar conditions (311):
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Total variants: 25
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HGVS dbSNP
NM_001015877.2(PHF6):c.1024C>T (p.Arg342Ter) rs132630297
NM_001015877.2(PHF6):c.113del (p.Lys38fs) rs1057519064
NM_001015877.2(PHF6):c.134G>A (p.Cys45Tyr) rs132630299
NM_001015877.2(PHF6):c.139-11_139-7del rs781657256
NM_001015877.2(PHF6):c.139-8A>G
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)
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.374+8T>C rs142596708
NM_001015877.2(PHF6):c.418G>A (p.Ala140Thr) rs864309532
NM_001015877.2(PHF6):c.487C>T (p.Arg163Cys) rs199945885
NM_001015877.2(PHF6):c.65C>A (p.Ser22Ter) rs1569334260
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.729+4A>G rs188961105
NM_001015877.2(PHF6):c.757_759ACA[2] (p.Thr255del) rs1556019105
NM_001015877.2(PHF6):c.769A>G (p.Arg257Gly) rs104894919
NM_001015877.2(PHF6):c.823G>A (p.Gly275Arg)
NM_001015877.2(PHF6):c.829del (p.Arg277fs)
NM_001015877.2(PHF6):c.914G>T (p.Cys305Phe) rs587777489
NM_001015877.2(PHF6):c.927C>T (p.Asp309=) rs112199174

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