ClinVar Miner

List of variants in gene TERT reported as benign for pulmonary fibrosis

Included ClinVar conditions (20):
Minimum submission review status: Collection method:
Minimum conflict level:
Gene type:
ClinVar version:
Total variants: 67
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HGVS dbSNP gnomAD frequency
NM_198253.3(TERT):c.2654+269T>C rs2075786 0.54966
NM_198253.3(TERT):c.1574-3777G>T rs2736100 0.52208
NM_198253.3(TERT):c.1951-205G>A rs10069690 0.35840
NM_198253.3(TERT):c.1574-3235G>T rs7705526 0.28965
NM_198253.3(TERT):c.1769+225G>T rs7726159 0.28907
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.1950+245C>T rs2242652 0.17562
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.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.1950+15G>A rs35695689 0.00326
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.969G>A (p.Pro323=) rs148549782 0.00224
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.1574-16G>C rs79698601 0.00144
NM_198253.3(TERT):c.534C>T (p.Leu178=) rs370420108 0.00124
NM_198253.3(TERT):c.2769G>A (p.Pro923=) rs200174990 0.00118
NM_198253.3(TERT):c.1884C>T (p.Asp628=) rs143992655 0.00088
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.2991G>A (p.Val997=) rs376266401 0.00030
NM_198253.3(TERT):c.2520G>A (p.Leu840=) rs144310369 0.00029
NM_198253.3(TERT):c.1138C>T (p.Pro380Ser) rs144756946 0.00024
NM_198253.3(TERT):c.2391C>G (p.Ser797=) rs377216965 0.00020
NM_198253.3(TERT):c.2884C>T (p.Arg962Cys) rs144697790 0.00019
NM_198253.3(TERT):c.604G>A (p.Ala202Thr) rs121918661 0.00018
NM_198253.3(TERT):c.642G>A (p.Leu214=) rs549656839 0.00015
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.2573G>A (p.Arg858Gln) rs144779807 0.00011
NM_198253.3(TERT):c.1785G>A (p.Arg595=) rs765708956 0.00010
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.2139G>A (p.Val713=) rs775722062 0.00008
NM_198253.3(TERT):c.887A>C (p.His296Pro) rs778187343 0.00007
NM_198253.3(TERT):c.1025G>A (p.Arg342Gln) rs773366454 0.00006
NM_198253.3(TERT):c.2654+10G>A rs375473823 0.00006
NM_198253.3(TERT):c.737C>T (p.Pro246Leu) rs377315722 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.1317GGA[2] (p.Glu441del) rs377639087
NM_198253.3(TERT):c.1769+13del rs1301313710
NM_198253.3(TERT):c.1770-14dup
NM_198253.3(TERT):c.1951-6del rs2126642447
NM_198253.3(TERT):c.2658C>A (p.Thr886=) rs371744235
NM_198253.3(TERT):c.2844-11dup rs1491484726
NM_198253.3(TERT):c.3158-3del rs748986490
NM_198253.3(TERT):c.663G>T (p.Ala221=) rs35837567

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