ClinVar Miner

List of variants reported as pathogenic for ZTTK syndrome

Included ClinVar conditions (1):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 9
Download table as spreadsheet
NM_138927.3(SON):c.286C>T (p.Gln96Ter) rs886039777
NM_138927.3(SON):c.3073dup (p.Met1025fs) rs886039778
NM_138927.3(SON):c.3556C>T (p.Gln1186Ter) rs1275312464
NM_138927.3(SON):c.384del (p.Lys128fs) rs778418096
NM_138927.3(SON):c.4640del (p.His1547fs) rs886039776
NM_138927.3(SON):c.5547_5548GA[1] (p.Arg1850fs) rs886039774
NM_138927.3(SON):c.5753_5756del (p.Val1918fs) rs886039773
NM_138927.3(SON):c.6002_6003insCC (p.Arg2002fs) rs886039775
NM_138927.3(SON):c.6233del (p.Pro2078fs) rs886039779

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.