ClinVar Miner

List of variants in gene POT1 reported as likely pathogenic

Minimum submission review status: Collection method:
Minimum conflict level:
Gene type:
ClinVar version:
Total variants: 7
Download table as spreadsheet
NM_015450.3(POT1):c.1065dup (p.Ala356fs)
NM_015450.3(POT1):c.1071dup (p.Gln358fs) rs750470470
NM_015450.3(POT1):c.1087C>T (p.Arg363Ter) rs756198077
NM_015450.3(POT1):c.125-2A>G rs1562997292
NM_015450.3(POT1):c.147del (p.Ile49fs) rs1064794328
NM_015450.3(POT1):c.1851_1852del (p.Asp617fs) rs758673417
NM_015450.3(POT1):c.281_282del (p.Gln94fs) rs1397398300

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.