ClinVar Miner

List of variants in gene TERT reported as likely pathogenic for anemia (disease)

Included ClinVar conditions (262):
Minimum submission review status: Collection method:
Minimum conflict level:
Gene type:
ClinVar version:
Total variants: 9
Download table as spreadsheet
NM_198253.2(TERT):c.1990G>C (p.Val664Leu) rs797046042
NM_198253.2(TERT):c.2011C>G (p.Arg671Gly) rs1060503011
NM_198253.2(TERT):c.2051A>G (p.Asp684Gly) rs776981958
NM_198253.2(TERT):c.2058C>G (p.Ile686Met) rs745590324
NM_198253.2(TERT):c.2227C>T (p.Arg743Trp) rs1388515349
NM_198253.2(TERT):c.3150G>C (p.Lys1050Asn) rs373400596
NM_198253.2(TERT):c.3399A>G (p.Ter1133Trp) rs1554038048
NM_198253.2(TERT):c.604G>A (p.Ala202Thr) rs121918661

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.