ClinVar Miner

List of variants in gene PHF6 studied for Inborn genetic diseases

Minimum submission review status: Collection method:
Minimum conflict level:
Gene type:
ClinVar version:
Total variants: 22
Download table as spreadsheet
HGVS dbSNP gnomAD frequency
NM_001015877.2(PHF6):c.927C>T (p.Asp309=) rs112199174 0.00809
NM_001015877.2(PHF6):c.729+4A>G rs188961105 0.00691
NM_001015877.2(PHF6):c.342A>C (p.Gln114His) rs1303947958 0.00003
NM_001015877.2(PHF6):c.1004G>T (p.Arg335Ile)
NM_001015877.2(PHF6):c.1052A>G (p.Glu351Gly)
NM_001015877.2(PHF6):c.1058A>G (p.Asp353Gly)
NM_001015877.2(PHF6):c.1089T>C (p.Asn363=)
NM_001015877.2(PHF6):c.123G>A (p.Ala41=)
NM_001015877.2(PHF6):c.159A>G (p.Val53=)
NM_001015877.2(PHF6):c.241-5_255del
NM_001015877.2(PHF6):c.274A>G (p.Ile92Val)
NM_001015877.2(PHF6):c.407A>G (p.His136Arg)
NM_001015877.2(PHF6):c.525G>C (p.Leu175=)
NM_001015877.2(PHF6):c.648T>C (p.His216=)
NM_001015877.2(PHF6):c.673C>T (p.Arg225Ter) rs1556018932
NM_001015877.2(PHF6):c.724T>C (p.Cys242Arg) rs1556018943
NM_001015877.2(PHF6):c.762A>C (p.Thr254=)
NM_001015877.2(PHF6):c.820C>T (p.Arg274Ter) rs1556019107
NM_001015877.2(PHF6):c.834+53_834+58del
NM_001015877.2(PHF6):c.865A>G (p.Thr289Ala) rs2077475371
NM_001015877.2(PHF6):c.915_916delinsAA (p.Cys305_Gly306delinsTer) rs797044908
NM_001015877.2(PHF6):c.965A>C (p.Tyr322Ser)

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.