ClinVar Miner

List of variants in gene TBCK reported by Undiagnosed Diseases Network, NIH

Minimum submission review status: Collection method:
Minimum conflict level:
Gene type:
ClinVar version:
Total variants: 7
Download table as spreadsheet
HGVS dbSNP gnomAD frequency
NM_001163435.3(TBCK):c.456-2A>G rs780527809 0.00001
NC_000004.12:g.106168703_106217941del
NM_001163435.2(TBCK):c.2060-9050_2235+26133del
NM_001163435.3(TBCK):c.1860+1G>A rs1303851095
NM_001163435.3(TBCK):c.2060-6793_2235+427del
NM_001163435.3(TBCK):c.2060_2235+1del rs1560755661
NM_001163435.3(TBCK):c.659-1G>A rs1579391376

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.