List of variants in gene TERT reported as benign for anemia

Minimum submission review status:		Collection method:
Minimum conflict level: Report conflict between different conditions
Gene type: Distinguish antisense genes from sense genes
Show significances as they were submitted (without aggregation into standard terms)
		ClinVar version:

Total variants: 37

Download table as spreadsheet

HGVS	dbSNP	gnomAD frequency
NM_198253.3(TERT):c.915G>A (p.Ala305=)	rs2736098	0.21206
NM_198253.3(TERT):c.*99C>T	rs2853690	0.20149
NM_198253.3(TERT):c.3039C>T (p.His1013=)	rs33954691	0.08834
NM_198253.3(TERT):c.1573+39G>C	rs79662648	0.02633
NM_198253.3(TERT):c.835G>A (p.Ala279Thr)	rs61748181	0.02258
NM_198253.3(TERT):c.2031C>T (p.Gly677=)	rs33956095	0.02136
NM_198253.3(TERT):c.3324G>A (p.Pro1108=)	rs35033501	0.01868
NM_198253.3(TERT):c.1950+10C>T	rs33948291	0.01758
NM_198253.3(TERT):c.*63C>T	rs5031049	0.01135
NM_198253.3(TERT):c.1659C>T (p.Val553=)	rs35809415	0.00838
NM_198253.3(TERT):c.2097C>T (p.Ala699=)	rs33963617	0.00739
NM_198253.3(TERT):c.*153C>T	rs114012142	0.00547
NM_198253.3(TERT):c.1812A>G (p.Ala604=)	rs33959226	0.00255
NM_198253.3(TERT):c.1574-7G>A	rs34846301	0.00220
NM_198253.3(TERT):c.3105C>T (p.Val1035=)	rs181612536	0.00207
NM_198253.3(TERT):c.2517G>A (p.Thr839=)	rs140124989	0.00178
NM_198253.3(TERT):c.534C>T (p.Leu178=)	rs370420108	0.00124
NM_198253.3(TERT):c.1849C>T (p.Leu617=)	rs140951453	0.00083
NM_198253.3(TERT):c.2106G>A (p.Pro702=)	rs151055240	0.00050
NM_198253.3(TERT):c.2130+10G>A	rs373879259	0.00048
NM_198253.3(TERT):c.2582+11C>T	rs180675821	0.00036
NM_198253.3(TERT):c.2991G>A (p.Val997=)	rs376266401	0.00030
NM_198253.3(TERT):c.2520G>A (p.Leu840=)	rs144310369	0.00029
NM_198253.3(TERT):c.2391C>G (p.Ser797=)	rs377216965	0.00020
NM_198253.3(TERT):c.604G>A (p.Ala202Thr)	rs121918661	0.00018
NM_198253.3(TERT):c.645C>T (p.Gly215=)	rs768426236	0.00014
NM_198253.3(TERT):c.2383-15C>T	rs574645600	0.00013
NM_198253.3(TERT):c.1392C>T (p.Phe464=)	rs186596886	0.00008
NM_198253.3(TERT):c.887A>C (p.His296Pro)	rs778187343	0.00007
NM_198253.3(TERT):c.2654+10G>A	rs375473823	0.00006
NM_198253.3(TERT):c.2263G>A (p.Val755Ile)	rs576633619	0.00004
NM_198253.3(TERT):c.3150G>C (p.Lys1050Asn)	rs373400596	0.00004
NM_198253.3(TERT):c.834C>A (p.Pro278=)	rs375423906	0.00003
NM_198253.3(TERT):c.2886C>T (p.Arg962=)	rs542440625	0.00002
NM_198253.3(TERT):c.2781A>G (p.Leu927=)	rs370292237	0.00001
NM_198253.3(TERT):c.1269C>T (p.Ala423=)	rs190411812
NM_198253.3(TERT):c.663G>T (p.Ala221=)	rs35837567

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.