ClinVar Miner

List of variants in gene combination PKD1, TSC2 reported as likely benign by Genetic Services Laboratory, University of Chicago

Minimum submission review status: Collection method:
Minimum conflict level:
Gene type:
ClinVar version:
Total variants: 5
Download table as spreadsheet
HGVS dbSNP gnomAD frequency
NM_000548.5(TSC2):c.5202T>C (p.Asp1734=) rs1748 0.35806
NM_000548.5(TSC2):c.5161-10A>C rs1800718 0.30182
NM_000548.5(TSC2):c.5321G>C (p.Ser1774Thr) rs9209 0.00888
NM_000548.5(TSC2):c.5131G>A (p.Val1711Met) rs139779505 0.00054
NM_000548.5(TSC2):c.5397G>C (p.Ser1799=) rs1051771

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.