ClinVar Miner

List of variants reported as likely pathogenic for Tuberous sclerosis 1 by Center for Human Genetics, Inc

Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 7
Download table as spreadsheet
HGVS dbSNP
NM_000368.4(TSC1):c.1013_1019del (p.Ile338fs) rs1554817344
NM_000368.4(TSC1):c.1029+3A>G rs1554817334
NM_000368.4(TSC1):c.1579C>T (p.Gln527Ter) rs118203549
NM_000368.4(TSC1):c.1782_1786del (p.Gly595fs) rs1554815828
NM_000368.4(TSC1):c.509-1G>A rs1554819620
NM_000368.4(TSC1):c.769_776del (p.Ile257fs) rs1554817676
NM_000368.4(TSC1):c.982C>T (p.Gln328Ter) rs1554817388

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.