ClinVar Miner

List of variants in gene TERT reported as likely pathogenic for pulmonary fibrosis

Included ClinVar conditions (20):
Minimum submission review status: Collection method:
Minimum conflict level:
Gene type:
ClinVar version:
Total variants: 50
Download table as spreadsheet
HGVS dbSNP gnomAD frequency
NM_198253.3(TERT):c.2051A>G (p.Asp684Gly) rs776981958 0.00013
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.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.2594G>A (p.Arg865His) rs121918666 0.00001
NM_198253.3(TERT):c.2812C>T (p.Arg938Trp) rs1422814635 0.00001
NM_198253.3(TERT):c.2851C>T (p.Arg951Trp) rs370445231 0.00001
NC_000005.9:g.(?_1282524)_(1282759_?)dup
NM_198253.3(TERT):c.1364A>T (p.His455Leu) rs781329984
NM_198253.3(TERT):c.1456C>T (p.Arg486Cys) rs199422293
NM_198253.3(TERT):c.1573+2T>A
NM_198253.3(TERT):c.1574-1G>A rs1750106866
NM_198253.3(TERT):c.1574-1G>C
NM_198253.3(TERT):c.1601A>G (p.His534Arg)
NM_198253.3(TERT):c.2053G>A (p.Asp685Asn) rs1579575848
NM_198253.3(TERT):c.2130+1G>A
NM_198253.3(TERT):c.2130+1G>C
NM_198253.3(TERT):c.2130+2T>G
NM_198253.3(TERT):c.2131-2A>G
NM_198253.3(TERT):c.2286+1G>A rs1749780301
NM_198253.3(TERT):c.2286+1G>T
NM_198253.3(TERT):c.2382+1G>C rs1749089374
NM_198253.3(TERT):c.2382+1G>T
NM_198253.3(TERT):c.2382+235_2453del
NM_198253.3(TERT):c.2426_2427del (p.Phe809fs)
NM_198253.3(TERT):c.2583-2A>T
NM_198253.3(TERT):c.2591T>C (p.Leu864Pro) rs1561194110
NM_198253.3(TERT):c.2599G>A (p.Val867Met) rs201159197
NM_198253.3(TERT):c.2638G>A (p.Ala880Thr) rs1748613571
NM_198253.3(TERT):c.2654+1G>C
NM_198253.3(TERT):c.2665C>T (p.Arg889Ter)
NM_198253.3(TERT):c.2912G>A (p.Arg971His) rs1748153358
NM_198253.3(TERT):c.2970+1G>A
NM_198253.3(TERT):c.2970+2T>G rs2126584187
NM_198253.3(TERT):c.2991del (p.Cys998fs) rs1554038539
NM_198253.3(TERT):c.3026C>T (p.Ala1009Val) rs866575708
NM_198253.3(TERT):c.3032+1G>C
NM_198253.3(TERT):c.3033-2A>C
NM_198253.3(TERT):c.3118G>A (p.Ala1040Thr) rs770144114
NM_198253.3(TERT):c.3157+1G>T rs2126562296
NM_198253.3(TERT):c.3187G>A (p.Gly1063Ser) rs938938578
NM_198253.3(TERT):c.329G>C (p.Gly110Ala) rs1751262771
NM_198253.3(TERT):c.329G>T (p.Gly110Val)
NM_198253.3(TERT):c.336dup (p.Glu113fs) rs1060502990
NM_198253.3(TERT):c.3399A>G (p.Ter1133Trp) rs1554038048
NM_198253.3(TERT):c.345C>G (p.Phe115Leu) rs1579598699
NM_198253.3(TERT):c.359G>C (p.Arg120Pro) rs1554043083
NM_198253.3(TERT):c.999CTC[1] (p.Ser335del) rs1170942980

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.