ClinVar Miner

List of variants in gene PHF6 reported as uncertain significance for Borjeson-Forssman-Lehmann syndrome

Included ClinVar conditions (1):
Minimum submission review status: Collection method:
Minimum conflict level:
Gene type:
ClinVar version:
Total variants: 29
Download table as spreadsheet
HGVS dbSNP gnomAD frequency
NM_001015877.2(PHF6):c.342A>C (p.Gln114His) rs1303947958 0.00003
NM_001015877.2(PHF6):c.176A>G (p.Asn59Ser) rs202007952 0.00002
NM_001015877.2(PHF6):c.233C>T (p.Thr78Met) rs767406620 0.00002
NM_001015877.2(PHF6):c.688A>G (p.Ile230Val) rs794727879 0.00002
NM_001015877.2(PHF6):c.122C>T (p.Ala41Val) rs760978695 0.00001
NM_001015877.2(PHF6):c.247T>G (p.Ser83Ala) rs762897039 0.00001
NM_001015877.2(PHF6):c.-47+5G>A rs2077265772
NM_001015877.2(PHF6):c.1011AGA[1] (p.Glu338del)
NM_001015877.2(PHF6):c.1015G>A (p.Asp339Asn)
NM_001015877.2(PHF6):c.1020_1022del (p.Glu341del)
NM_001015877.2(PHF6):c.1052A>G (p.Glu351Gly)
NM_001015877.2(PHF6):c.113del (p.Lys38fs) rs1057519064
NM_001015877.2(PHF6):c.157G>T (p.Val53Leu)
NM_001015877.2(PHF6):c.310C>G (p.His104Asp) rs2077363957
NM_001015877.2(PHF6):c.369T>G (p.Ile123Met)
NM_001015877.2(PHF6):c.374T>A (p.Met125Lys)
NM_001015877.2(PHF6):c.375G>A (p.Met125Ile)
NM_001015877.2(PHF6):c.383G>A (p.Cys128Tyr)
NM_001015877.2(PHF6):c.440A>T (p.Asn147Ile) rs2077459540
NM_001015877.2(PHF6):c.497G>A (p.Arg166Lys)
NM_001015877.2(PHF6):c.623C>T (p.Thr208Ile)
NM_001015877.2(PHF6):c.766_768del (p.Ser256del)
NM_001015877.2(PHF6):c.823G>A (p.Gly275Arg) rs1602716458
NM_001015877.2(PHF6):c.829A>G (p.Arg277Gly)
NM_001015877.2(PHF6):c.865A>G (p.Thr289Ala) rs2077475371
NM_001015877.2(PHF6):c.86G>C (p.Gly29Ala) rs2077284343
NM_001015877.2(PHF6):c.89A>G (p.Gln30Arg)
NM_001015877.2(PHF6):c.947A>T (p.Asn316Ile)
NM_001015877.2(PHF6):c.969-6T>G rs2077504087

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.