ClinVar Miner

List of variants in gene TERT reported as pathogenic for anemia (disease)

Included ClinVar conditions (262):
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Gene type:
ClinVar version:
Total variants: 44
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HGVS dbSNP
NC_000005.9:g.(?_1280263)_(1280463_?)del
NC_000005.9:g.(?_1280267)_(1280459_?)del
NM_198253.2(TERT):c.1044_1045CT[2] (p.Leu350fs) rs1554042899
NM_198253.2(TERT):c.1234C>T (p.His412Tyr) rs34094720
NM_198253.2(TERT):c.1450G>T (p.Glu484Ter)
NM_198253.2(TERT):c.1685_1686del (p.Tyr562fs)
NM_198253.2(TERT):c.1796G>A (p.Arg599Gln)
NM_198253.2(TERT):c.1892G>A (p.Arg631Gln) rs199422294
NM_198253.2(TERT):c.2029G>T (p.Gly677Cys) rs199422296
NM_198253.2(TERT):c.2045G>A (p.Gly682Asp) rs199422295
NM_198253.2(TERT):c.2080G>A (p.Val694Met) rs121918662
NM_198253.2(TERT):c.2098C>T (p.Gln700Ter) rs878855300
NM_198253.2(TERT):c.2110C>T (p.Pro704Ser) rs199422297
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.2162C>G (p.Pro721Arg) rs199422299
NM_198253.2(TERT):c.2177C>T (p.Thr726Met) rs149566858
NM_198253.2(TERT):c.2240del (p.Val747fs) rs199422300
NM_198253.2(TERT):c.2315A>G (p.Tyr772Cys) rs121918663
NM_198253.2(TERT):c.2320C>T (p.Arg774Ter) rs770066110
NM_198253.2(TERT):c.2431C>T (p.Arg811Cys) rs199422301
NM_198253.2(TERT):c.2537A>G (p.Tyr846Cys) rs199422302
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.2701C>T (p.Arg901Trp) rs199422304
NM_198253.2(TERT):c.2705A>G (p.Lys902Arg) rs387907250
NM_198253.2(TERT):c.2706G>C (p.Lys902Asn) rs121918665
NM_198253.2(TERT):c.2768C>T (p.Pro923Leu) rs387907251
NM_198253.2(TERT):c.2839T>C (p.Ser947Pro)
NM_198253.2(TERT):c.2935C>T (p.Arg979Trp) rs199422305
NM_198253.2(TERT):c.3043T>C (p.Cys1015Arg) rs199422307
NM_198253.2(TERT):c.3108_3109CT[1] (p.Ile1036_Ser1037insTer) rs1554038257
NM_198253.2(TERT):c.3184G>A (p.Ala1062Thr) rs35719940
NM_198253.2(TERT):c.3268G>A (p.Val1090Met) rs121918664
NM_198253.2(TERT):c.3346G>C (p.Glu1116Gln)
NM_198253.2(TERT):c.336dup (p.Glu113fs) rs1060502990
NM_198253.2(TERT):c.508G>A (p.Val170Met) rs387907248
NM_198253.2(TERT):c.579_580delinsTT (p.Arg194Ter) rs1554043041
NM_198253.2(TERT):c.604G>A (p.Ala202Thr) rs121918661
NM_198253.2(TERT):c.688C>T (p.Arg230Ter)
NM_198253.2(TERT):c.835G>A (p.Ala279Thr) rs61748181
NM_198253.2(TERT):c.[2371G>A;2599G>A]
TERT:c.1710G>Y (p.Lys570Asn) rs1554041299

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