ClinVar Miner

List of variants reported as pathogenic for canthal anomaly by Genetic Services Laboratory, University of Chicago

Included ClinVar conditions (57):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 8
Download table as spreadsheet
NM_000356.4(TCOF1):c.386_387del (p.Thr129fs) rs797046037
NM_000356.4(TCOF1):c.4134dup (p.Glu1379fs) rs587776585
NM_001360.3(DHCR7):c.964-1G>C rs138659167
NM_001371623.1(TCOF1):c.4372_4376del (p.Lys1458fs) rs587776582
NM_005850.5(SF3B4):c.1230_1249del (p.Pro411fs) rs797045954
NM_005850.5(SF3B4):c.193G>T (p.Glu65Ter) rs797045955
NM_005850.5(SF3B4):c.45_46del (p.Tyr16fs) rs797045956
NM_005850.5(SF3B4):c.731_743del (p.Pro244fs) rs797045957

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.