ClinVar Miner

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

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Gene type:
ClinVar version:
Total variants: 120
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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.534C>T (p.Leu178=) rs370420108 0.00124
NM_198253.3(TERT):c.572G>C (p.Ser191Thr) rs11952056 0.00100
NM_198253.3(TERT):c.1336C>A (p.Arg446Ser) rs567650961 0.00084
NM_198253.3(TERT):c.1849C>T (p.Leu617=) rs140951453 0.00083
NM_198253.3(TERT):c.1836C>G (p.Ala612=) rs34170122 0.00056
NM_198253.3(TERT):c.1953C>T (p.Ala651=) rs201088708 0.00054
NM_198253.3(TERT):c.3351C>T (p.Ala1117=) rs192377676 0.00052
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.2775C>T (p.His925=) rs34528119 0.00035
NM_198253.3(TERT):c.1932G>A (p.Thr644=) rs148582238 0.00031
NM_198253.3(TERT):c.2520G>A (p.Leu840=) rs144310369 0.00029
NM_198253.3(TERT):c.2014C>T (p.Arg672Cys) rs368430301 0.00024
NM_198253.3(TERT):c.1931C>T (p.Thr644Met) rs201927653 0.00023
NM_198253.3(TERT):c.604G>A (p.Ala202Thr) rs121918661 0.00018
NM_198253.3(TERT):c.2370C>T (p.Val790=) rs376251639 0.00013
NM_198253.3(TERT):c.2383-15C>T rs574645600 0.00013
NM_198253.3(TERT):c.2079C>T (p.Phe693=) rs371759577 0.00011
NM_198253.3(TERT):c.2178G>A (p.Thr726=) rs199422288 0.00011
NM_198253.3(TERT):c.2573G>A (p.Arg858Gln) rs144779807 0.00011
NM_198253.3(TERT):c.3186C>T (p.Ala1062=) rs201067706 0.00011
NM_198253.3(TERT):c.1983G>A (p.Leu661=) rs375454175 0.00010
NM_198253.3(TERT):c.1974G>A (p.Val658=) rs778496417 0.00009
NM_198253.3(TERT):c.2001C>T (p.Tyr667=) rs758494245 0.00009
NM_198253.3(TERT):c.3159G>A (p.Gly1053=) rs200002330 0.00009
NM_198253.3(TERT):c.2139G>A (p.Val713=) rs775722062 0.00008
NM_198253.3(TERT):c.2256T>C (p.His752=) rs745650751 0.00007
NM_198253.3(TERT):c.1842C>T (p.Pro614=) rs747157175 0.00006
NM_198253.3(TERT):c.2177C>T (p.Thr726Met) rs149566858 0.00006
NM_198253.3(TERT):c.2654+10G>A rs375473823 0.00006
NM_198253.3(TERT):c.1108C>T (p.Pro370Ser) rs143148040 0.00005
NM_198253.3(TERT):c.2169C>T (p.Asp723=) rs368762140 0.00005
NM_198253.3(TERT):c.2283C>T (p.Ser761=) rs370808390 0.00005
NM_198253.3(TERT):c.2287-5G>A rs561426406 0.00005
NM_198253.3(TERT):c.555G>C (p.Arg185=) rs777633830 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.1393G>C (p.Val465Leu) rs758110675 0.00003
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.2235C>T (p.Ala745=) rs777869512 0.00003
NM_198253.3(TERT):c.2262C>T (p.His754=) rs778622091 0.00003
NM_198253.3(TERT):c.2301A>G (p.Thr767=) rs374592280 0.00003
NM_198253.3(TERT):c.2496G>A (p.Pro832=) rs763470933 0.00003
NM_198253.3(TERT):c.2971-10G>T rs878855303 0.00003
NM_198253.3(TERT):c.3267C>T (p.Tyr1089=) rs759883263 0.00003
NM_198253.3(TERT):c.618C>T (p.Ser206=) rs759142412 0.00003
NM_198253.3(TERT):c.863C>T (p.Ala288Val) rs774657340 0.00003
NM_198253.3(TERT):c.1593C>T (p.Ala531=) rs146462061 0.00002
NM_198253.3(TERT):c.1806G>A (p.Ser602=) rs773873942 0.00002
NM_198253.3(TERT):c.2091G>A (p.Val697=) rs377436842 0.00002
NM_198253.3(TERT):c.2187C>T (p.Ile729=) rs200819224 0.00002
NM_198253.3(TERT):c.2744G>A (p.Gly915Asp) rs202033269 0.00002
NM_198253.3(TERT):c.3126C>T (p.Leu1042=) rs377570406 0.00002
NM_198253.3(TERT):c.636C>T (p.Val212=) rs762440833 0.00002
NM_198253.3(TERT):c.867C>T (p.Leu289=) rs771194908 0.00002
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.2286C>T (p.His762=) rs768062052 0.00001
NM_198253.3(TERT):c.2376C>T (p.Ile792=) rs769431975 0.00001
NM_198253.3(TERT):c.2382+20G>C rs886038759 0.00001
NM_198253.3(TERT):c.2383-17C>T rs937340337 0.00001
NM_198253.3(TERT):c.2582+7C>A rs766415474 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.3018G>C (p.Leu1006=) rs941352340 0.00001
NM_198253.3(TERT):c.3032+7C>T rs371500615 0.00001
NM_198253.3(TERT):c.3042A>G (p.Ala1014=) rs1337149388 0.00001
NM_198253.3(TERT):c.3252A>G (p.Arg1084=) rs757638312 0.00001
NM_198253.3(TERT):c.481C>T (p.Leu161=) rs368291455 0.00001
NM_198253.3(TERT):c.492C>T (p.Pro164=) rs751568040 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.975C>T (p.Tyr325=) rs774784101 0.00001
NM_198253.3(TERT):c.979G>C (p.Glu327Gln) rs371457181 0.00001
NM_198253.3(TERT):c.*10G>A
NM_198253.3(TERT):c.1174_1175del (p.Leu392fs)
NM_198253.3(TERT):c.1242G>T (p.Pro414=)
NM_198253.3(TERT):c.1317GGA[2] (p.Glu441del) rs377639087
NM_198253.3(TERT):c.1334C>G (p.Pro445Arg) rs956854933
NM_198253.3(TERT):c.1409G>A (p.Arg470His)
NM_198253.3(TERT):c.1457G>C (p.Arg486Pro)
NM_198253.3(TERT):c.1663G>A (p.Glu555Lys)
NM_198253.3(TERT):c.1917C>T (p.Val639=) rs142989562
NM_198253.3(TERT):c.2071C>A (p.Arg691Ser) rs866767063
NM_198253.3(TERT):c.2130+4G>T rs762332544
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.2382+3C>A rs1579564797
NM_198253.3(TERT):c.2408G>A (p.Ser803Asn)
NM_198253.3(TERT):c.2539G>A (p.Gly847Ser)
NM_198253.3(TERT):c.2658C>A (p.Thr886=) rs371744235
NM_198253.3(TERT):c.2813G>A (p.Arg938Gln) rs199741493
NM_198253.3(TERT):c.2851C>A (p.Arg951=) rs370445231
NM_198253.3(TERT):c.286G>A (p.Val96Met) rs2126690679
NM_198253.3(TERT):c.2982C>T (p.Leu994=) rs762178169
NM_198253.3(TERT):c.3032+9C>G rs1747926384
NM_198253.3(TERT):c.3138C>T (p.Ile1046=) rs1747638242
NM_198253.3(TERT):c.3158-4C>T rs767207462
NM_198253.3(TERT):c.3346G>A (p.Glu1116Lys) rs1196160200
NM_198253.3(TERT):c.3358A>C (p.Asn1120His) rs781651959
NM_198253.3(TERT):c.468C>T (p.Cys156=) rs755843023
NM_198253.3(TERT):c.628G>A (p.Ala210Thr) rs1751225599
NM_198253.3(TERT):c.687C>T (p.Ser229=) rs1554043016
NM_198253.3(TERT):c.913_915delinsACA (p.Ala305Thr)
NM_198253.3(TERT):c.957G>C (p.Thr319=) rs1018341020

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