List of variants reported as uncertain significance for Intellectual disability, X-linked, syndromic 33 by Genome Medicine, Institute for Basic Research in Developmental Disabilities

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

Total variants: 10

Download table as spreadsheet

HGVS	dbSNP	gnomAD frequency
NM_004606.5(TAF1):c.1237G>A (p.Asp413Asn)	rs367907623	0.00009
NM_004606.5(TAF1):c.4130G>A (p.Arg1377Gln)	rs748747814	0.00001
NM_004606.5(TAF1):c.2120G>C (p.Arg707Pro)	rs1602490113
NM_004606.5(TAF1):c.2557T>G (p.Phe853Val)	rs1602504701
NM_004606.5(TAF1):c.2773G>A (p.Asp925Asn)	rs1555971253
NM_004606.5(TAF1):c.3992T>A (p.Ile1331Asn)	rs1602549992
NM_004606.5(TAF1):c.4382A>G (p.Asn1461Ser)	rs1602572645
NM_004606.5(TAF1):c.4666A>G (p.Lys1556Glu)	rs1602627327
NM_004606.5(TAF1):c.553A>G (p.Ser185Gly)	rs1602459601
NM_004606.5(TAF1):c.892G>A (p.Ala298Thr)	rs1602463196

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.