ClinVar Miner

List of variants in gene TERT reported as likely pathogenic for not provided

Minimum submission review status: Collection method:
Minimum conflict level:
Gene type:
ClinVar version:
Total variants: 27
Download table as spreadsheet
HGVS dbSNP gnomAD frequency
NM_198253.3(TERT):c.2110C>T (p.Pro704Ser) rs199422297 0.00004
NM_198253.3(TERT):c.1700C>T (p.Thr567Met) rs886039438 0.00001
NM_198253.3(TERT):c.2011C>T (p.Arg671Trp) rs1060503011 0.00001
NM_198253.3(TERT):c.2080G>A (p.Val694Met) rs121918662 0.00001
NM_198253.3(TERT):c.2105C>T (p.Pro702Leu) rs754809046 0.00001
NM_198253.3(TERT):c.2312C>T (p.Pro771Leu) rs1309399887 0.00001
NM_198253.3(TERT):c.2431C>T (p.Arg811Cys) rs199422301 0.00001
NM_198253.3(TERT):c.2455C>T (p.Arg819Cys) rs746621306 0.00001
NM_198253.3(TERT):c.2639C>T (p.Ala880Val) rs1748613384 0.00001
NM_198253.3(TERT):c.2812C>T (p.Arg938Trp) rs1422814635 0.00001
NM_198253.3(TERT):c.1456C>T (p.Arg486Cys) rs199422293
NM_198253.3(TERT):c.1729C>T (p.Arg577Trp) rs1207489144
NM_198253.3(TERT):c.1864C>T (p.Arg622Cys) rs1579577192
NM_198253.3(TERT):c.1891C>T (p.Arg631Trp) rs1194223999
NM_198253.3(TERT):c.2147C>G (p.Ala716Gly)
NM_198253.3(TERT):c.2147C>T (p.Ala716Val) rs199422298
NM_198253.3(TERT):c.2314T>C (p.Tyr772His) rs1749098222
NM_198253.3(TERT):c.2431_2433delinsTGT (p.Arg811Cys)
NM_198253.3(TERT):c.2461del (p.Arg821fs) rs2126614292
NM_198253.3(TERT):c.2593C>T (p.Arg865Cys) rs372868296
NM_198253.3(TERT):c.2603A>G (p.Asp868Gly) rs1748618030
NM_198253.3(TERT):c.2638G>A (p.Ala880Thr) rs1748613571
NM_198253.3(TERT):c.2768C>T (p.Pro923Leu) rs387907251
NM_198253.3(TERT):c.3157+1G>T rs2126562296
NM_198253.3(TERT):c.347C>T (p.Thr116Ile) rs1751259223
NM_198253.3(TERT):c.383C>T (p.Thr128Ile)
NM_198253.3(TERT):c.521_522insACGGGCCGCC (p.Leu175fs)

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.