List of variants in gene TAF1 reported as pathogenic for X-linked disease

Minimum submission review status:		Collection method:
Minimum conflict level: Report conflict between different conditions
Gene type: Distinguish antisense genes from sense genes
Show significances as they were submitted (without aggregation into standard terms)
		ClinVar version:

Total variants: 11

Download table as spreadsheet

HGVS	dbSNP	gnomAD frequency
NM_004606.5(TAF1):c.428C>T (p.Pro143Leu)	rs767354861	0.00005
NM_004606.5(TAF1):c.1207T>G (p.Phe403Val)	rs2033670961
NM_004606.5(TAF1):c.1454T>A (p.Ile485Asn)	rs2148276174
NM_004606.5(TAF1):c.1726C>T (p.Pro576Ser)	rs864321630
NM_004606.5(TAF1):c.2359T>C (p.Cys787Arg)	rs864321628
NM_004606.5(TAF1):c.2866G>C (p.Asp956His)	rs864321631
NM_004606.5(TAF1):c.3508C>T (p.Arg1170Cys)	rs1569301036
NM_004606.5(TAF1):c.3676C>T (p.Arg1226Trp)	rs864321629
NM_004606.5(TAF1):c.3950T>C (p.Ile1317Thr)	rs864321627
NM_004606.5(TAF1):c.4295G>A (p.Arg1432His)	rs2148488251
NM_004606.5(TAF1):c.4489A>C (p.Asn1497His)	rs1602624914

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.