ClinVar Miner

List of variants in gene TERT studied for acquired aplastic anemia

Included ClinVar conditions (18):
Minimum submission review status: Collection method:
Minimum conflict level:
Gene type:
ClinVar version:
Total variants: 60
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HGVS dbSNP
NM_001193376.1(TERT):c.887A>C (p.His296Pro) rs778187343
NM_198253.2(TERT):c.*104C>T rs886059830
NM_198253.2(TERT):c.*153C>T rs114012142
NM_198253.2(TERT):c.*230T>C rs751808151
NM_198253.2(TERT):c.*63C>T rs5031049
NM_198253.2(TERT):c.*99C>T rs2853690
NM_198253.2(TERT):c.1234C>T (p.His412Tyr) rs34094720
NM_198253.2(TERT):c.1323_1325delGGA (p.Glu441del) rs377639087
NM_198253.2(TERT):c.1393G>C (p.Val465Leu) rs758110675
NM_198253.2(TERT):c.1659C>T (p.Val553=) rs35809415
NM_198253.2(TERT):c.1812A>G (p.Ala604=) rs33959226
NM_198253.2(TERT):c.1849C>T (p.Leu617=) rs140951453
NM_198253.2(TERT):c.1892G>A (p.Arg631Gln) rs199422294
NM_198253.2(TERT):c.1950+10C>T rs33948291
NM_198253.2(TERT):c.2031C>T (p.Gly677=) rs33956095
NM_198253.2(TERT):c.2051A>G (p.Asp684Gly) rs776981958
NM_198253.2(TERT):c.2080G>A (p.Val694Met) rs121918662
NM_198253.2(TERT):c.2097C>T (p.Ala699=) rs33963617
NM_198253.2(TERT):c.2106G>A (p.Pro702=) rs151055240
NM_198253.2(TERT):c.2146G>A (p.Ala716Thr) rs387907249
NM_198253.2(TERT):c.2147C>T (p.Ala716Val) rs199422298
NM_198253.2(TERT):c.2221G>A (p.Val741Met) rs150819225
NM_198253.2(TERT):c.2240delT (p.Val747Alafs) rs199422300
NM_198253.2(TERT):c.2287-5G>A rs561426406
NM_198253.2(TERT):c.2315A>G (p.Tyr772Cys) rs121918663
NM_198253.2(TERT):c.2383-15C>T rs574645600
NM_198253.2(TERT):c.2391C>G (p.Ser797=) rs377216965
NM_198253.2(TERT):c.2517G>A (p.Thr839=) rs140124989
NM_198253.2(TERT):c.2520G>A (p.Leu840=) rs144310369
NM_198253.2(TERT):c.2537A>G (p.Tyr846Cys) rs199422302
NM_198253.2(TERT):c.2582+11C>T rs180675821
NM_198253.2(TERT):c.2583-2A>C rs111576740
NM_198253.2(TERT):c.2594G>A (p.Arg865His) rs121918666
NM_198253.2(TERT):c.2628C>G (p.His876Gln) rs199422303
NM_198253.2(TERT):c.2654+10G>A rs375473823
NM_198253.2(TERT):c.2705A>G (p.Lys902Arg) rs387907250
NM_198253.2(TERT):c.2768C>T (p.Pro923Leu) rs387907251
NM_198253.2(TERT):c.2775C>T (p.His925=) rs34528119
NM_198253.2(TERT):c.2781A>G (p.Leu927=) rs370292237
NM_198253.2(TERT):c.2886C>T (p.Arg962=) rs542440625
NM_198253.2(TERT):c.2935C>T (p.Arg979Trp) rs199422305
NM_198253.2(TERT):c.2946T>C (p.Cys982=) rs201689770
NM_198253.2(TERT):c.3039C>T (p.His1013=) rs33954691
NM_198253.2(TERT):c.3043T>C (p.Cys1015Arg) rs199422307
NM_198253.2(TERT):c.3105C>T (p.Val1035=) rs181612536
NM_198253.2(TERT):c.3150G>C (p.Lys1050Asn) rs373400596
NM_198253.2(TERT):c.3184G>A (p.Ala1062Thr) rs35719940
NM_198253.2(TERT):c.3191C>T (p.Pro1064Leu) rs886059831
NM_198253.2(TERT):c.3268G>A (p.Val1090Met) rs121918664
NM_198253.2(TERT):c.3324G>A (p.Pro1108=) rs35033501
NM_198253.2(TERT):c.3399A>G (p.Ter1133Trp) rs1554038048
NM_198253.2(TERT):c.508G>A (p.Val170Met) rs387907248
NM_198253.2(TERT):c.572G>C (p.Ser191Thr) rs11952056
NM_198253.2(TERT):c.579_580delCCinsTT (p.Arg194Ter) rs1554043041
NM_198253.2(TERT):c.604G>A (p.Ala202Thr) rs121918661
NM_198253.2(TERT):c.663G>T (p.Ala221=) rs35837567
NM_198253.2(TERT):c.835G>A (p.Ala279Thr) rs61748181
NM_198253.2(TERT):c.880C>T (p.His294Tyr) rs886059906
NM_198253.2(TERT):c.915G>A (p.Ala305=) rs2736098
NM_198253.2(TERT):c.[2371G>A;2599G>A]

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