ClinVar Miner

List of variants in gene EFNB1 reported as likely pathogenic for X-linked syndromic intellectual disability

Included ClinVar conditions (165):
Minimum submission review status: Collection method:
Minimum conflict level:
Gene type:
ClinVar version:
Total variants: 5
Download table as spreadsheet
NM_004429.4(EFNB1):c.131T>C (p.Phe44Ser) rs1556105849
NM_004429.4(EFNB1):c.407C>T (p.Ser136Leu) rs1057519033
NM_004429.4(EFNB1):c.466C>T (p.Arg156Cys) rs1057519034
NM_004429.4(EFNB1):c.499+1G>A rs1556107481
NM_004429.4(EFNB1):c.523C>T (p.Gln175Ter) rs1556107856

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.