ClinVar Miner

List of variants in gene TAF1 reported as likely benign for X-linked syndromic intellectual disability

Included ClinVar conditions (104):
Minimum submission review status: Collection method:
Minimum conflict level:
Gene type:
ClinVar version:
Total variants: 11
Download table as spreadsheet
HGVS dbSNP gnomAD frequency
NM_004606.5(TAF1):c.422C>T (p.Pro141Leu) rs141145230 0.00045
NM_004606.5(TAF1):c.4698G>A (p.Arg1566=) rs148007434 0.00033
NM_004606.5(TAF1):c.4754-4A>G rs370696191 0.00029
NM_004606.5(TAF1):c.4155G>A (p.Thr1385=) rs202158967 0.00009
NM_004606.5(TAF1):c.4521G>A (p.Ala1507=) rs758753633 0.00005
NM_004606.5(TAF1):c.5599A>T (p.Ser1867Cys) rs753892104 0.00002
NM_004606.5(TAF1):c.802C>T (p.Arg268Cys) rs1399230018 0.00001
NM_004606.5(TAF1):c.1188TCT[1] (p.Leu398del) rs1602468194
NM_004606.5(TAF1):c.1765A>G (p.Ile589Val) rs1602485648
NM_004606.5(TAF1):c.2305A>G (p.Arg769Gly) rs1602500103
NM_004606.5(TAF1):c.5304G>C (p.Glu1768Asp) rs1602753978

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.