ClinVar Miner

List of variants in gene PHF6 reported as pathogenic for X-linked syndromic intellectual disability

Included ClinVar conditions (168):
Minimum submission review status: Collection method:
Minimum conflict level:
Gene type:
ClinVar version:
Total variants: 15
Download table as spreadsheet
HGVS dbSNP
NM_001015877.2(PHF6):c.1024C>T (p.Arg342Ter) rs132630297
NM_001015877.2(PHF6):c.914G>T (p.Cys305Phe) rs587777489
NM_032335.3(PHF6):c.134G>A (p.Cys45Tyr) rs132630299
NM_032335.3(PHF6):c.139-8A>G
NM_032335.3(PHF6):c.22A>T (p.Lys8Ter) rs132630301
NM_032335.3(PHF6):c.255C>A (p.Cys85Ter) rs1114167289
NM_032335.3(PHF6):c.27dup (p.Gly10fs)
NM_032335.3(PHF6):c.296G>T (p.Cys99Phe) rs132630298
NM_032335.3(PHF6):c.29_30dup (p.Pro11fs) rs1556013203
NM_032335.3(PHF6):c.2T>C (p.Met1Thr) rs132630300
NM_032335.3(PHF6):c.418G>A (p.Ala140Thr) rs864309532
NM_032335.3(PHF6):c.676C>T (p.Arg226Ter) rs1556018932
NM_032335.3(PHF6):c.689A>G (p.His230Arg) rs104894918
NM_032335.3(PHF6):c.703A>G (p.Lys235Glu) rs104894917
NM_032335.3(PHF6):c.772A>G (p.Arg258Gly) rs104894919

The information on this website is not intended for direct diagnostic use or medical decision-making without review by a genetics professional. Individuals should not change their health behavior solely on the basis of information contained on this website. Neither the University of Utah nor the National Institutes of Health independently verfies the submitted information. If you have questions about the information contained on this website, please see a health care professional.