ClinVar Miner

List of variants in gene TERT reported by Preventiongenetics, part of Exact Sciences

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Gene type:
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Total variants: 45
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HGVS dbSNP gnomAD frequency
NM_198253.3(TERT):c.915G>A (p.Ala305=) rs2736098 0.21206
NM_198253.3(TERT):c.3039C>T (p.His1013=) rs33954691 0.08834
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.3184G>A (p.Ala1062Thr) rs35719940 0.01370
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.1812A>G (p.Ala604=) rs33959226 0.00255
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.1849C>T (p.Leu617=) rs140951453 0.00083
NM_198253.3(TERT):c.2106G>A (p.Pro702=) rs151055240 0.00050
NM_198253.3(TERT):c.2775C>T (p.His925=) rs34528119 0.00035
NM_198253.3(TERT):c.2520G>A (p.Leu840=) rs144310369 0.00029
NM_198253.3(TERT):c.2256T>C (p.His752=) rs745650751 0.00007
NM_198253.3(TERT):c.2177C>T (p.Thr726Met) rs149566858 0.00006
NM_198253.3(TERT):c.2287-5G>A rs561426406 0.00005
NM_198253.3(TERT):c.2946T>C (p.Cys982=) rs201689770 0.00004
NM_198253.3(TERT):c.3089C>G (p.Thr1030Arg) rs377419542 0.00004
NM_198253.3(TERT):c.1449C>T (p.Asn483=) rs761174773 0.00003
NM_198253.3(TERT):c.1769+16G>A rs202108457 0.00003
NM_198253.3(TERT):c.863C>T (p.Ala288Val) rs774657340 0.00003
NM_198253.3(TERT):c.1692G>A (p.Thr564=) rs377217777 0.00001
NM_198253.3(TERT):c.2080G>A (p.Val694Met) rs121918662 0.00001
NM_198253.3(TERT):c.2185A>G (p.Ile729Val) rs753929279 0.00001
NM_198253.3(TERT):c.2382+20G>C rs886038759 0.00001
NM_198253.3(TERT):c.2655-47_2659dup rs1561193114 0.00001
NM_198253.3(TERT):c.2689G>A (p.Val897Met) rs559028617 0.00001
NM_198253.3(TERT):c.2851C>T (p.Arg951Trp) rs370445231 0.00001
NM_198253.3(TERT):c.508G>A (p.Val170Met) rs387907248 0.00001
NM_198253.3(TERT):c.560C>G (p.Pro187Arg) rs906128293 0.00001
NM_198253.3(TERT):c.1174_1175del (p.Leu392fs)
NM_198253.3(TERT):c.1409G>A (p.Arg470His)
NM_198253.3(TERT):c.1457G>C (p.Arg486Pro)
NM_198253.3(TERT):c.2071C>A (p.Arg691Ser) rs866767063
NM_198253.3(TERT):c.2329G>A (p.Val777Met) rs1554040129
NM_198253.3(TERT):c.2377G>A (p.Glu793Lys) rs1043358053
NM_198253.3(TERT):c.2408G>A (p.Ser803Asn)
NM_198253.3(TERT):c.2539G>A (p.Gly847Ser)
NM_198253.3(TERT):c.2813G>A (p.Arg938Gln) rs199741493
NM_198253.3(TERT):c.3358A>C (p.Asn1120His) rs781651959
NM_198253.3(TERT):c.628G>A (p.Ala210Thr) rs1751225599
NM_198253.3(TERT):c.913_915delinsACA (p.Ala305Thr)

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