ClinVar Miner

List of variants in gene TERT studied for acquired aplastic anemia

Included ClinVar conditions (22):
Minimum submission review status: Collection method:
Minimum conflict level:
Gene type:
ClinVar version:
Total variants: 97
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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.*99C>T rs2853690 0.20149
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.*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.1234C>T (p.His412Tyr) rs34094720 0.00316
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.572G>C (p.Ser191Thr) rs11952056 0.00100
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.2775C>T (p.His925=) rs34528119 0.00035
NM_198253.3(TERT):c.1932G>A (p.Thr644=) rs148582238 0.00031
NM_198253.3(TERT):c.2991G>A (p.Val997=) rs376266401 0.00030
NM_198253.3(TERT):c.3333G>A (p.Thr1111=) rs200102606 0.00030
NM_198253.3(TERT):c.2520G>A (p.Leu840=) rs144310369 0.00029
NM_198253.3(TERT):c.*237C>T rs567092780 0.00024
NM_198253.3(TERT):c.1931C>T (p.Thr644Met) rs201927653 0.00023
NM_198253.3(TERT):c.*83G>A rs533940688 0.00022
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.2079C>T (p.Phe693=) rs371759577 0.00011
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.3268G>A (p.Val1090Met) rs121918664 0.00009
NM_198253.3(TERT):c.779G>A (p.Gly260Asp) rs148798048 0.00009
NM_198253.3(TERT):c.1392C>T (p.Phe464=) rs186596886 0.00008
NM_198253.3(TERT):c.2127C>G (p.Val709=) rs765264494 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.1108C>T (p.Pro370Ser) rs143148040 0.00005
NM_198253.3(TERT):c.2287-5G>A rs561426406 0.00005
NM_198253.3(TERT):c.*230T>C rs751808151 0.00004
NM_198253.3(TERT):c.2263G>A (p.Val755Ile) rs576633619 0.00004
NM_198253.3(TERT):c.2580C>T (p.Asp860=) rs751752830 0.00004
NM_198253.3(TERT):c.2946T>C (p.Cys982=) rs201689770 0.00004
NM_198253.3(TERT):c.3150G>C (p.Lys1050Asn) rs373400596 0.00004
NM_198253.3(TERT):c.3323C>T (p.Pro1108Leu) rs376255453 0.00004
NM_198253.3(TERT):c.3329C>T (p.Thr1110Met) rs199422306 0.00004
NM_198253.3(TERT):c.*104C>T rs886059830 0.00003
NM_198253.3(TERT):c.1393G>C (p.Val465Leu) rs758110675 0.00003
NM_198253.3(TERT):c.2190C>T (p.Ala730=) rs138128892 0.00003
NM_198253.3(TERT):c.834C>A (p.Pro278=) rs375423906 0.00003
NM_198253.3(TERT):c.863C>T (p.Ala288Val) rs774657340 0.00003
NM_198253.3(TERT):c.968C>G (p.Pro323Arg) rs139342764 0.00003
NM_198253.3(TERT):c.*64G>A rs1327773385 0.00002
NM_198253.3(TERT):c.2886C>T (p.Arg962=) rs542440625 0.00002
NM_198253.3(TERT):c.*339T>C rs920370048 0.00001
NM_198253.3(TERT):c.1939A>C (p.Arg647=) rs144821759 0.00001
NM_198253.3(TERT):c.1954G>A (p.Glu652Lys) rs1228165704 0.00001
NM_198253.3(TERT):c.2080G>A (p.Val694Met) rs121918662 0.00001
NM_198253.3(TERT):c.2781A>G (p.Leu927=) rs370292237 0.00001
NM_198253.3(TERT):c.3101G>A (p.Arg1034His) rs62331332 0.00001
NM_198253.3(TERT):c.3303G>A (p.Thr1101=) rs551516320 0.00001
NM_198253.3(TERT):c.375C>T (p.Asn125=) rs1751256209 0.00001
NM_198253.3(TERT):c.508G>A (p.Val170Met) rs387907248 0.00001
NM_198253.3(TERT):c.880C>T (p.His294Tyr) rs886059906 0.00001
NM_198253.3(TERT):c.895G>A (p.Val299Met) rs756624928 0.00001
NM_198253.3(TERT):c.*308A>G rs1747469600
NM_198253.3(TERT):c.1070C>G (p.Ala357Gly) rs1751166833
NM_198253.3(TERT):c.1110C>G (p.Pro370=) rs1579597009
NM_198253.3(TERT):c.1269C>T (p.Ala423=) rs190411812
NM_198253.3(TERT):c.1304T>A (p.Val435Glu) rs1561213530
NM_198253.3(TERT):c.1317GGA[2] (p.Glu441del) rs377639087
NM_198253.3(TERT):c.1401C>T (p.Ala467=) rs1751126189
NM_198253.3(TERT):c.2003A>C (p.Glu668Ala) rs1749859084
NM_198253.3(TERT):c.2147C>T (p.Ala716Val) rs199422298
NM_198253.3(TERT):c.2315A>G (p.Tyr772Cys) rs121918663
NM_198253.3(TERT):c.2523C>G (p.Leu841=) rs1554039733
NM_198253.3(TERT):c.2537A>G (p.Tyr846Cys) rs199422302
NM_198253.3(TERT):c.2626C>A (p.His876Asn) rs1483412488
NM_198253.3(TERT):c.2628C>G (p.His876Gln) rs199422303
NM_198253.3(TERT):c.2935C>T (p.Arg979Trp) rs199422305
NM_198253.3(TERT):c.3043T>C (p.Cys1015Arg) rs199422307
NM_198253.3(TERT):c.3191C>T (p.Pro1064Leu) rs886059831
NM_198253.3(TERT):c.336dup (p.Glu113fs) rs1060502990
NM_198253.3(TERT):c.483G>C (p.Leu161=) rs755155708
NM_198253.3(TERT):c.663G>T (p.Ala221=) rs35837567
NM_198253.3(TERT):c.696G>T (p.Leu232=) rs1033402019
NM_198253.3(TERT):c.764C>A (p.Ser255Tyr) rs1751207450
NM_198253.3(TERT):c.847A>C (p.Thr283Pro) rs1295657479
NM_198253.3(TERT):c.875C>G (p.Thr292Arg) rs1751193051
NM_198253.3(TERT):c.908A>T (p.His303Leu) rs1751187792

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