ClinVar Miner

List of variants in gene TERT reported as pathogenic by Invitae

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Gene type:
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Total variants: 71
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HGVS dbSNP gnomAD frequency
NM_198253.3(TERT):c.2320C>T (p.Arg774Ter) rs770066110 0.00009
NM_198253.3(TERT):c.2594G>A (p.Arg865His) rs121918666 0.00001
NC_000005.10:g.(?_1280152)_(1280344_?)del
NC_000005.9:g.(?_1253843)_(1297488_?)del
NC_000005.9:g.(?_1266569)_(1297488_?)del
NC_000005.9:g.(?_1282524)_(1297488_?)del
NC_000005.9:g.(?_1282603)_(1283866_?)del
NC_000005.9:g.(?_1287194)_(1297488_?)del
NM_198253.3(TERT):c.1048_1049del (p.Leu350fs) rs1554042899
NM_198253.3(TERT):c.1070del (p.Ala357fs)
NM_198253.3(TERT):c.1122del (p.Thr375fs) rs2126685887
NM_198253.3(TERT):c.1141del (p.Arg381fs)
NM_198253.3(TERT):c.1156_1171del (p.Tyr386fs) rs1751155195
NM_198253.3(TERT):c.1174_1175del (p.Leu392fs)
NM_198253.3(TERT):c.1246C>T (p.Arg416Ter)
NM_198253.3(TERT):c.1314del (p.Glu439fs) rs2126684848
NM_198253.3(TERT):c.1379del (p.Gln460fs)
NM_198253.3(TERT):c.1424del (p.Pro475fs) rs2126684234
NM_198253.3(TERT):c.1434G>A (p.Trp478Ter) rs1751122711
NM_198253.3(TERT):c.1450G>T (p.Glu484Ter) rs1561213355
NM_198253.3(TERT):c.1453del (p.Arg485fs)
NM_198253.3(TERT):c.1471del (p.Thr491fs)
NM_198253.3(TERT):c.1612G>T (p.Glu538Ter) rs2126649912
NM_198253.3(TERT):c.1685_1686del (p.Tyr562fs) rs1579580058
NM_198253.3(TERT):c.1712del (p.Asn571fs) rs1750090102
NM_198253.3(TERT):c.1743G>A (p.Trp581Ter) rs1750086002
NM_198253.3(TERT):c.1805C>A (p.Ser602Ter)
NM_198253.3(TERT):c.1831G>T (p.Glu611Ter)
NM_198253.3(TERT):c.1837_1841del (p.Leu616fs)
NM_198253.3(TERT):c.1871_1872dup (p.Pro625fs) rs2126644399
NM_198253.3(TERT):c.1891C>T (p.Arg631Trp) rs1194223999
NM_198253.3(TERT):c.1892G>A (p.Arg631Gln) rs199422294
NM_198253.3(TERT):c.2098C>T (p.Gln700Ter) rs878855300
NM_198253.3(TERT):c.2146G>A (p.Ala716Thr) rs387907249
NM_198253.3(TERT):c.2147C>T (p.Ala716Val) rs199422298
NM_198253.3(TERT):c.2315_2330del (p.Tyr772fs) rs2126617841
NM_198253.3(TERT):c.2323C>T (p.Gln775Ter)
NM_198253.3(TERT):c.2380C>T (p.Gln794Ter)
NM_198253.3(TERT):c.2461_2462del (p.Arg821fs)
NM_198253.3(TERT):c.2461del (p.Arg821fs) rs2126614292
NM_198253.3(TERT):c.2540dup (p.Asp848fs) rs1748786633
NM_198253.3(TERT):c.2599G>A (p.Val867Met) rs201159197
NM_198253.3(TERT):c.2630_2634del (p.Leu877fs)
NM_198253.3(TERT):c.2638G>A (p.Ala880Thr) rs1748613571
NM_198253.3(TERT):c.2704A>T (p.Lys902Ter) rs1748461171
NM_198253.3(TERT):c.2752del (p.Ala918fs)
NM_198253.3(TERT):c.2790G>A (p.Trp930Ter)
NM_198253.3(TERT):c.2808_2815del (p.Thr937fs)
NM_198253.3(TERT):c.2924_2925del (p.Phe975fs)
NM_198253.3(TERT):c.2943del (p.Lys981fs)
NM_198253.3(TERT):c.3073del (p.Val1025fs)
NM_198253.3(TERT):c.3087del (p.Thr1030fs)
NM_198253.3(TERT):c.3110_3111del (p.Ile1036_Ser1037insTer) rs1554038257
NM_198253.3(TERT):c.3211C>T (p.Gln1071Ter) rs1747568641
NM_198253.3(TERT):c.3235del (p.Leu1079fs) rs1270172263
NM_198253.3(TERT):c.329del (p.Gly110fs) rs1554043093
NM_198253.3(TERT):c.336dup (p.Glu113fs) rs1060502990
NM_198253.3(TERT):c.489_493del (p.Pro164fs)
NM_198253.3(TERT):c.505C>T (p.Gln169Ter)
NM_198253.3(TERT):c.598G>T (p.Glu200Ter) rs1322987070
NM_198253.3(TERT):c.613dup (p.His205fs) rs1751227147
NM_198253.3(TERT):c.688C>T (p.Arg230Ter) rs989271195
NM_198253.3(TERT):c.735_745del (p.Glu245fs)
NM_198253.3(TERT):c.757C>T (p.Gln253Ter)
NM_198253.3(TERT):c.767G>A (p.Trp256Ter) rs2126687935
NM_198253.3(TERT):c.809dup (p.Cys271fs)
NM_198253.3(TERT):c.923del (p.Pro308fs)
NM_198253.3(TERT):c.923dup (p.Ser309fs) rs1191885727
NM_198253.3(TERT):c.950G>A (p.Trp317Ter)
NM_198253.3(TERT):c.970del (p.Val324fs)
NM_198253.3(TERT):c.996del (p.Tyr333fs) rs2126686445

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