ClinVar Miner

List of variants in gene TERT studied for anemia (disease)

Included ClinVar conditions (262):
Minimum submission review status: Collection method:
Minimum conflict level:
Gene type:
ClinVar version:
Total variants: 548
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HGVS dbSNP
NC_000005.9:g.(?_1253833)_(1253956_?)dup
NC_000005.9:g.(?_1253833)_(1255536_?)dup
NC_000005.9:g.(?_1253833)_(1258784_?)dup
NC_000005.9:g.(?_1253833)_(1272405_?)dup
NC_000005.9:g.(?_1280263)_(1280463_?)del
NC_000005.9:g.(?_1280267)_(1280459_?)del
NM_198253.2(TERT):c.(?_1574)_(1769_?)del
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.1013A>G (p.Lys338Arg)
NM_198253.2(TERT):c.1025G>A (p.Arg342Gln)
NM_198253.2(TERT):c.1044_1045CT[2] (p.Leu350fs) rs1554042899
NM_198253.2(TERT):c.1046C>G (p.Ser349Cys) rs904848231
NM_198253.2(TERT):c.1051A>G (p.Arg351Gly)
NM_198253.2(TERT):c.1068C>T (p.Gly356=) rs1224933352
NM_198253.2(TERT):c.1105A>G (p.Arg369Gly) rs1561213793
NM_198253.2(TERT):c.1108C>T (p.Pro370Ser) rs143148040
NM_198253.2(TERT):c.1119A>C (p.Pro373=) rs747342234
NM_198253.2(TERT):c.1130G>A (p.Arg377His) rs756954938
NM_198253.2(TERT):c.1138C>T (p.Pro380Ser) rs144756946
NM_198253.2(TERT):c.1142G>C (p.Arg381Pro) rs777343359
NM_198253.2(TERT):c.1143C>T (p.Arg381=) rs878855298
NM_198253.2(TERT):c.1193G>A (p.Gly398Glu) rs1554042874
NM_198253.2(TERT):c.1196A>G (p.Asn399Ser) rs1561213697
NM_198253.2(TERT):c.1202C>T (p.Ala401Val) rs539667998
NM_198253.2(TERT):c.1210C>G (p.Pro404Ala) rs1561213668
NM_198253.2(TERT):c.1211C>G (p.Pro404Arg) rs1060503008
NM_198253.2(TERT):c.1234C>T (p.His412Tyr) rs34094720
NM_198253.2(TERT):c.1244T>G (p.Leu415Arg) rs1561213606
NM_198253.2(TERT):c.1250C>T (p.Ala417Val) rs1440396485
NM_198253.2(TERT):c.1269C>A (p.Ala423=) rs190411812
NM_198253.2(TERT):c.1269C>T (p.Ala423=) rs190411812
NM_198253.2(TERT):c.1285G>A (p.Glu429Lys) rs1561213553
NM_198253.2(TERT):c.1287G>A (p.Glu429=) rs1060504790
NM_198253.2(TERT):c.1304T>A (p.Val435Glu) rs1561213530
NM_198253.2(TERT):c.1307C>T (p.Ala436Val) rs986886145
NM_198253.2(TERT):c.1310C>T (p.Ala437Val) rs1554042841
NM_198253.2(TERT):c.1314C>T (p.Pro438=) rs1246997503
NM_198253.2(TERT):c.1315G>C (p.Glu439Gln) rs747463378
NM_198253.2(TERT):c.1317_1319GGA[2] (p.Glu441del) rs377639087
NM_198253.2(TERT):c.1323G>T (p.Glu441Asp)
NM_198253.2(TERT):c.1324G>A (p.Asp442Asn)
NM_198253.2(TERT):c.1327A>C (p.Thr443Pro)
NM_198253.2(TERT):c.1328C>G (p.Thr443Arg) rs772257175
NM_198253.2(TERT):c.1331A>G (p.Asp444Gly) rs878855299
NM_198253.2(TERT):c.1336C>A (p.Arg446Ser) rs567650961
NM_198253.2(TERT):c.1365C>T (p.His455=) rs904892356
NM_198253.2(TERT):c.1372C>A (p.Pro458Thr)
NM_198253.2(TERT):c.1378_1380del (p.Gln460del) rs199422292
NM_198253.2(TERT):c.1389C>T (p.Gly463=) rs1554042821
NM_198253.2(TERT):c.1392C>T (p.Phe464=) rs186596886
NM_198253.2(TERT):c.1393G>C (p.Val465Leu) rs758110675
NM_198253.2(TERT):c.1411C>T (p.Arg471Trp)
NM_198253.2(TERT):c.1417G>C (p.Val473Leu) rs1554042817
NM_198253.2(TERT):c.1436G>A (p.Gly479Asp)
NM_198253.2(TERT):c.1437C>T (p.Gly479=) rs1378108036
NM_198253.2(TERT):c.1449C>T (p.Asn483=) rs761174773
NM_198253.2(TERT):c.1450G>C (p.Glu484Gln) rs1561213355
NM_198253.2(TERT):c.1450G>T (p.Glu484Ter)
NM_198253.2(TERT):c.1458C>T (p.Arg486=) rs1554042806
NM_198253.2(TERT):c.1465A>C (p.Arg489=) rs201990815
NM_198253.2(TERT):c.1476G>A (p.Lys492=) rs1060504789
NM_198253.2(TERT):c.1489C>T (p.Leu497=) rs747756167
NM_198253.2(TERT):c.1505A>G (p.Lys502Arg) rs896201074
NM_198253.2(TERT):c.1511C>G (p.Ser504Trp) rs1561213283
NM_198253.2(TERT):c.1514T>A (p.Leu505Gln) rs1344847833
NM_198253.2(TERT):c.1526C>T (p.Thr509Met) rs1554042799
NM_198253.2(TERT):c.1533G>A (p.Lys511=) rs1554042793
NM_198253.2(TERT):c.1546G>C (p.Asp516His)
NM_198253.2(TERT):c.1552G>T (p.Ala518Ser)
NM_198253.2(TERT):c.1560G>A (p.Leu520=) rs753991999
NM_198253.2(TERT):c.1561C>T (p.Arg521Cys) rs1448835821
NM_198253.2(TERT):c.1562G>T (p.Arg521Leu) rs1060503002
NM_198253.2(TERT):c.1563C>T (p.Arg521=) rs764171875
NM_198253.2(TERT):c.1564A>C (p.Arg522=) rs200864183
NM_198253.2(TERT):c.1569C>G (p.Ser523Arg) rs1060503014
NM_198253.2(TERT):c.1574-3235G>T rs7705526
NM_198253.2(TERT):c.1574-7G>A rs34846301
NM_198253.2(TERT):c.1574-8C>T rs957049391
NM_198253.2(TERT):c.1589C>T (p.Pro530Leu) rs369539932
NM_198253.2(TERT):c.1590G>A (p.Pro530=) rs1396912668
NM_198253.2(TERT):c.1594G>A (p.Ala532Thr)
NM_198253.2(TERT):c.1594G>T (p.Ala532Ser) rs776459827
NM_198253.2(TERT):c.1604G>A (p.Arg535His) rs768398955
NM_198253.2(TERT):c.1609C>T (p.Arg537Cys) rs760352197
NM_198253.2(TERT):c.1615G>A (p.Glu539Lys) rs1203927893
NM_198253.2(TERT):c.1625C>T (p.Ala542Val)
NM_198253.2(TERT):c.1647G>A (p.Met549Ile) rs1554041316
NM_198253.2(TERT):c.1651G>A (p.Val551Met) rs1554041313
NM_198253.2(TERT):c.1656C>T (p.Tyr552=) rs143789839
NM_198253.2(TERT):c.1657G>A (p.Val553Ile)
NM_198253.2(TERT):c.1659C>T (p.Val553=) rs35809415
NM_198253.2(TERT):c.1662C>G (p.Val554=) rs200539091
NM_198253.2(TERT):c.1662C>T (p.Val554=) rs200539091
NM_198253.2(TERT):c.1663G>C (p.Glu555Gln) rs1413965241
NM_198253.2(TERT):c.1680C>A (p.Phe560Leu) rs1554041306
NM_198253.2(TERT):c.1685_1686del (p.Tyr562fs)
NM_198253.2(TERT):c.1692G>A (p.Thr564=)
NM_198253.2(TERT):c.1728C>T (p.Tyr576=) rs1554041291
NM_198253.2(TERT):c.1730G>A (p.Arg577Gln) rs1311034283
NM_198253.2(TERT):c.1731G>C (p.Arg577=) rs143585580
NM_198253.2(TERT):c.1737T>A (p.Ser579Arg)
NM_198253.2(TERT):c.1760T>C (p.Ile587Thr)
NM_198253.2(TERT):c.1769+8A>T rs763457117
NM_198253.2(TERT):c.1770-9C>T
NM_198253.2(TERT):c.1779G>T (p.Leu593Phe)
NM_198253.2(TERT):c.1785G>A (p.Arg595=) rs765708956
NM_198253.2(TERT):c.1786G>T (p.Val596Leu) rs1554041101
NM_198253.2(TERT):c.1796G>A (p.Arg599Gln)
NM_198253.2(TERT):c.1805C>T (p.Ser602Leu)
NM_198253.2(TERT):c.1812A>G (p.Ala604=) rs33959226
NM_198253.2(TERT):c.1825C>T (p.His609Tyr) rs1263419082
NM_198253.2(TERT):c.1829G>A (p.Arg610Gln) rs776763536
NM_198253.2(TERT):c.1829G>T (p.Arg610Leu) rs776763536
NM_198253.2(TERT):c.1831G>A (p.Glu611Lys) rs1554041095
NM_198253.2(TERT):c.1836C>G (p.Ala612=) rs34170122
NM_198253.2(TERT):c.1843G>A (p.Ala615Thr) rs112614087
NM_198253.2(TERT):c.1844C>T (p.Ala615Val) rs1554041088
NM_198253.2(TERT):c.1849C>T (p.Leu617=) rs140951453
NM_198253.2(TERT):c.1853C>T (p.Thr618Met)
NM_198253.2(TERT):c.1854G>A (p.Thr618=) rs746040728
NM_198253.2(TERT):c.1864C>T (p.Arg622Cys)
NM_198253.2(TERT):c.1880C>G (p.Pro627Arg) rs146439826
NM_198253.2(TERT):c.1882G>A (p.Asp628Asn) rs1354825725
NM_198253.2(TERT):c.1884C>T (p.Asp628=) rs143992655
NM_198253.2(TERT):c.1892G>A (p.Arg631Gln) rs199422294
NM_198253.2(TERT):c.1896G>A (p.Pro632=) rs140056333
NM_198253.2(TERT):c.1906A>G (p.Met636Val) rs1265160730
NM_198253.2(TERT):c.1907T>C (p.Met636Thr) rs1060503010
NM_198253.2(TERT):c.1909G>A (p.Asp637Asn) rs1561203868
NM_198253.2(TERT):c.1913A>G (p.Tyr638Cys) rs1554041073
NM_198253.2(TERT):c.1914C>T (p.Tyr638=) rs541931572
NM_198253.2(TERT):c.1915G>A (p.Val639Ile) rs151121796
NM_198253.2(TERT):c.1917C>A (p.Val639=) rs142989562
NM_198253.2(TERT):c.1917C>T (p.Val639=) rs142989562
NM_198253.2(TERT):c.1918G>A (p.Val640Met) rs765195721
NM_198253.2(TERT):c.1918G>T (p.Val640Leu)
NM_198253.2(TERT):c.1924G>A (p.Ala642Thr)
NM_198253.2(TERT):c.1931C>T (p.Thr644Met) rs201927653
NM_198253.2(TERT):c.1932G>A (p.Thr644=) rs148582238
NM_198253.2(TERT):c.1936C>T (p.Arg646Cys) rs147521473
NM_198253.2(TERT):c.1937G>A (p.Arg646His) rs779338296
NM_198253.2(TERT):c.1939A>C (p.Arg647=) rs144821759
NM_198253.2(TERT):c.1950+10C>T rs33948291
NM_198253.2(TERT):c.1950+245C>T rs2242652
NM_198253.2(TERT):c.1951-205G>A rs10069690
NM_198253.2(TERT):c.1951-5G>A rs770214413
NM_198253.2(TERT):c.1951-6C>T rs200461281
NM_198253.2(TERT):c.1951-7C>A rs1440794144
NM_198253.2(TERT):c.1951G>C (p.Ala651Pro)
NM_198253.2(TERT):c.1953C>T (p.Ala651=) rs201088708
NM_198253.2(TERT):c.1954G>A (p.Glu652Lys) rs1228165704
NM_198253.2(TERT):c.1957C>T (p.Arg653Cys) rs372272356
NM_198253.2(TERT):c.1968G>A (p.Ser656=) rs368784316
NM_198253.2(TERT):c.1974G>A (p.Val658=) rs778496417
NM_198253.2(TERT):c.1983G>A (p.Leu661=) rs375454175
NM_198253.2(TERT):c.1989C>T (p.Ser663=) rs763907027
NM_198253.2(TERT):c.1990G>C (p.Val664Leu) rs797046042
NM_198253.2(TERT):c.2001C>T (p.Tyr667=) rs758494245
NM_198253.2(TERT):c.2005C>T (p.Arg669Trp) rs372140951
NM_198253.2(TERT):c.2007G>C (p.Arg669=) rs1060504788
NM_198253.2(TERT):c.2009C>T (p.Ala670Val)
NM_198253.2(TERT):c.2010G>A (p.Ala670=) rs759843505
NM_198253.2(TERT):c.2011C>G (p.Arg671Gly) rs1060503011
NM_198253.2(TERT):c.2011C>T (p.Arg671Trp) rs1060503011
NM_198253.2(TERT):c.2012G>A (p.Arg671Gln)
NM_198253.2(TERT):c.2013G>A (p.Arg671=) rs34625402
NM_198253.2(TERT):c.2014C>T (p.Arg672Cys) rs368430301
NM_198253.2(TERT):c.2016C>T (p.Arg672=) rs1283231300
NM_198253.2(TERT):c.2019C>T (p.Pro673=) rs762941707
NM_198253.2(TERT):c.2020G>A (p.Gly674Ser)
NM_198253.2(TERT):c.2021G>A (p.Gly674Asp) rs1238092784
NM_198253.2(TERT):c.2029G>T (p.Gly677Cys) rs199422296
NM_198253.2(TERT):c.2031C>T (p.Gly677=) rs33956095
NM_198253.2(TERT):c.2045G>A (p.Gly682Asp) rs199422295
NM_198253.2(TERT):c.2049G>A (p.Leu683=) rs1561203157
NM_198253.2(TERT):c.2051A>G (p.Asp684Gly) rs776981958
NM_198253.2(TERT):c.2052C>T (p.Asp684=) rs768948796
NM_198253.2(TERT):c.2053G>A (p.Asp685Asn)
NM_198253.2(TERT):c.2058C>G (p.Ile686Met) rs745590324
NM_198253.2(TERT):c.2071C>T (p.Arg691Cys)
NM_198253.2(TERT):c.2072G>A (p.Arg691His) rs202123213
NM_198253.2(TERT):c.2075C>T (p.Thr692Ile) rs1060503005
NM_198253.2(TERT):c.2079C>T (p.Phe693=) rs371759577
NM_198253.2(TERT):c.2080G>A (p.Val694Met) rs121918662
NM_198253.2(TERT):c.2081T>A (p.Val694Glu) rs1026167666
NM_198253.2(TERT):c.2087G>A (p.Arg696His)
NM_198253.2(TERT):c.2091G>A (p.Val697=) rs377436842
NM_198253.2(TERT):c.2097C>T (p.Ala699=) rs33963617
NM_198253.2(TERT):c.2098C>T (p.Gln700Ter) rs878855300
NM_198253.2(TERT):c.2105C>T (p.Pro702Leu)
NM_198253.2(TERT):c.2106G>A (p.Pro702=) rs151055240
NM_198253.2(TERT):c.2108C>T (p.Pro703Leu)
NM_198253.2(TERT):c.2110C>T (p.Pro704Ser) rs199422297
NM_198253.2(TERT):c.2118G>A (p.Leu706=) rs377030225
NM_198253.2(TERT):c.2127C>G (p.Val709=) rs765264494
NM_198253.2(TERT):c.2130+10G>A rs373879259
NM_198253.2(TERT):c.2130+5G>A
NM_198253.2(TERT):c.2130+9C>T rs769050926
NM_198253.2(TERT):c.2131-4A>C rs1030149805
NM_198253.2(TERT):c.2139G>A (p.Val713=) rs775722062
NM_198253.2(TERT):c.2141C>T (p.Thr714Met) rs772441504
NM_198253.2(TERT):c.2145C>A (p.Gly715=) rs769467251
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.2151C>T (p.Tyr717=) rs147261325
NM_198253.2(TERT):c.2157C>G (p.Thr719=) rs1554040905
NM_198253.2(TERT):c.2162C>G (p.Pro721Arg) rs199422299
NM_198253.2(TERT):c.2165A>G (p.Gln722Arg) rs1554040902
NM_198253.2(TERT):c.2169C>T (p.Asp723=) rs368762140
NM_198253.2(TERT):c.2177C>T (p.Thr726Met) rs149566858
NM_198253.2(TERT):c.2178G>A (p.Thr726=) rs199422288
NM_198253.2(TERT):c.2185A>G (p.Ile729Val) rs753929279
NM_198253.2(TERT):c.2187C>G (p.Ile729Met)
NM_198253.2(TERT):c.2188G>A (p.Ala730Thr) rs761116773
NM_198253.2(TERT):c.2190C>T (p.Ala730=) rs138128892
NM_198253.2(TERT):c.2205C>A (p.Pro735=) rs772650889
NM_198253.2(TERT):c.2214G>A (p.Thr738=) rs200858212
NM_198253.2(TERT):c.2220C>T (p.Cys740=) rs769553764
NM_198253.2(TERT):c.2221G>A (p.Val741Met) rs150819225
NM_198253.2(TERT):c.2221G>T (p.Val741Leu)
NM_198253.2(TERT):c.2227C>T (p.Arg743Trp) rs1388515349
NM_198253.2(TERT):c.2228G>A (p.Arg743Gln) rs768168259
NM_198253.2(TERT):c.2236G>A (p.Val746Met) rs1321220917
NM_198253.2(TERT):c.2239G>A (p.Val747Ile) rs1554040888
NM_198253.2(TERT):c.2240del (p.Val747fs) rs199422300
NM_198253.2(TERT):c.2248G>A (p.Ala750Thr)
NM_198253.2(TERT):c.2251G>A (p.Ala751Thr)
NM_198253.2(TERT):c.2255A>G (p.His752Arg) rs375699185
NM_198253.2(TERT):c.2256T>C (p.His752=) rs745650751
NM_198253.2(TERT):c.2262C>T (p.His754=) rs778622091
NM_198253.2(TERT):c.2263G>A (p.Val755Ile)
NM_198253.2(TERT):c.2267G>A (p.Arg756His)
NM_198253.2(TERT):c.2283C>T (p.Ser761=) rs370808390
NM_198253.2(TERT):c.2286+5G>C rs1060502997
NM_198253.2(TERT):c.2286C>T (p.His762=) rs768062052
NM_198253.2(TERT):c.2287-5G>A rs561426406
NM_198253.2(TERT):c.2287-6C>T rs758808508
NM_198253.2(TERT):c.2301A>G (p.Thr767=) rs374592280
NM_198253.2(TERT):c.2307C>G (p.Leu769=) rs117662357
NM_198253.2(TERT):c.2307C>T (p.Leu769=) rs117662357
NM_198253.2(TERT):c.2313G>A (p.Pro771=) rs199770141
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.2321G>A (p.Arg774Gln)
NM_198253.2(TERT):c.2345A>C (p.Glu782Ala) rs1060503012
NM_198253.2(TERT):c.2353C>G (p.Pro785Ala) rs755822641
NM_198253.2(TERT):c.2354C>G (p.Pro785Arg)
NM_198253.2(TERT):c.2355G>A (p.Pro785=) rs545260840
NM_198253.2(TERT):c.2356C>T (p.Leu786=) rs1488050310
NM_198253.2(TERT):c.2368G>A (p.Val790Ile)
NM_198253.2(TERT):c.2371G>A (p.Val791Ile) rs141425941
NM_198253.2(TERT):c.2382+3C>T
NM_198253.2(TERT):c.2382+4T>C
NM_198253.2(TERT):c.2382+6G>T
NM_198253.2(TERT):c.2383-15C>T rs574645600
NM_198253.2(TERT):c.2383-4G>A rs761513215
NM_198253.2(TERT):c.2383-5C>G
NM_198253.2(TERT):c.2383-5C>T rs373488315
NM_198253.2(TERT):c.2391C>G (p.Ser797=) rs377216965
NM_198253.2(TERT):c.2405G>T (p.Ser802Ile) rs1060503004
NM_198253.2(TERT):c.2411G>T (p.Gly804Val) rs1442845192
NM_198253.2(TERT):c.2418C>T (p.Phe806=) rs372497245
NM_198253.2(TERT):c.2422G>A (p.Val808Ile) rs200119385
NM_198253.2(TERT):c.2431C>T (p.Arg811Cys) rs199422301
NM_198253.2(TERT):c.2432G>A (p.Arg811His)
NM_198253.2(TERT):c.2446C>A (p.His816Asn)
NM_198253.2(TERT):c.2448C>T (p.His816=) rs368279364
NM_198253.2(TERT):c.2449G>A (p.Ala817Thr)
NM_198253.2(TERT):c.2455C>T (p.Arg819Cys) rs746621306
NM_198253.2(TERT):c.2456G>A (p.Arg819His) rs1343662571
NM_198253.2(TERT):c.2465G>A (p.Gly822Asp) rs757820442
NM_198253.2(TERT):c.2468+10G>T rs878855301
NM_198253.2(TERT):c.2475C>T (p.Tyr825=) rs141382603
NM_198253.2(TERT):c.2476G>A (p.Val826Ile) rs1060503009
NM_198253.2(TERT):c.2516C>T (p.Thr839Met)
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.2523C>G (p.Leu841=) rs1554039733
NM_198253.2(TERT):c.2527A>G (p.Ser843Gly) rs1554039732
NM_198253.2(TERT):c.2537A>G (p.Tyr846Cys) rs199422302
NM_198253.2(TERT):c.2538C>T (p.Tyr846=) rs778309923
NM_198253.2(TERT):c.2541C>T (p.Gly847=)
NM_198253.2(TERT):c.2542G>A (p.Asp848Asn)
NM_198253.2(TERT):c.2564C>T (p.Ala855Val) rs775014633
NM_198253.2(TERT):c.2565G>A (p.Ala855=) rs769077049
NM_198253.2(TERT):c.2573G>A (p.Arg858Gln) rs144779807
NM_198253.2(TERT):c.2577G>C (p.Arg859=) rs1554039723
NM_198253.2(TERT):c.2580C>T (p.Asp860=) rs751752830
NM_198253.2(TERT):c.2581G>A (p.Gly861Arg) rs1554039721
NM_198253.2(TERT):c.2582+11C>T rs180675821
NM_198253.2(TERT):c.2582+7C>A rs766415474
NM_198253.2(TERT):c.2583-2A>C rs111576740
NM_198253.2(TERT):c.2583-3T>C
NM_198253.2(TERT):c.2583-7A>G rs1060504796
NM_198253.2(TERT):c.2591T>C (p.Leu864Pro) rs1561194110
NM_198253.2(TERT):c.2594G>A (p.Arg865His) rs121918666
NM_198253.2(TERT):c.2596T>C (p.Leu866=) rs1060504798
NM_198253.2(TERT):c.2616G>C (p.Leu872Phe) rs1561194081
NM_198253.2(TERT):c.2628C>G (p.His876Gln) rs199422303
NM_198253.2(TERT):c.2640G>A (p.Ala880=) rs754776542
NM_198253.2(TERT):c.2643A>G (p.Lys881=) rs375558251
NM_198253.2(TERT):c.2652C>T (p.Leu884=) rs374309472
NM_198253.2(TERT):c.2654+10G>A rs375473823
NM_198253.2(TERT):c.2654+269T>C rs2075786
NM_198253.2(TERT):c.2654+9C>T rs1060504793
NM_198253.2(TERT):c.2655-9delC rs1060504795
NM_198253.2(TERT):c.2658C>A (p.Thr886=) rs371744235
NM_198253.2(TERT):c.2666G>A (p.Arg889Gln) rs532158398
NM_198253.2(TERT):c.2689G>A (p.Val897Met) rs559028617
NM_198253.2(TERT):c.2701C>A (p.Arg901=) rs199422304
NM_198253.2(TERT):c.2701C>T (p.Arg901Trp) rs199422304
NM_198253.2(TERT):c.2702G>A (p.Arg901Gln) rs772974254
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.2733C>T (p.Asp911=) rs768646695
NM_198253.2(TERT):c.2734G>A (p.Glu912Lys)
NM_198253.2(TERT):c.2736G>A (p.Glu912=) rs775289969
NM_198253.2(TERT):c.2740C>T (p.Leu914=) rs1554039274
NM_198253.2(TERT):c.2743G>A (p.Gly915Ser)
NM_198253.2(TERT):c.2744G>A (p.Gly915Asp) rs202033269
NM_198253.2(TERT):c.2751G>A (p.Thr917=) rs375200599
NM_198253.2(TERT):c.2768C>T (p.Pro923Leu) rs387907251
NM_198253.2(TERT):c.2769G>A (p.Pro923=) rs200174990
NM_198253.2(TERT):c.2772C>T (p.Ala924=) rs367672336
NM_198253.2(TERT):c.2775C>A (p.His925Gln) rs34528119
NM_198253.2(TERT):c.2775C>T (p.His925=) rs34528119
NM_198253.2(TERT):c.2776G>A (p.Gly926Ser)
NM_198253.2(TERT):c.2781A>G (p.Leu927=) rs370292237
NM_198253.2(TERT):c.2793C>T (p.Cys931=) rs764925909
NM_198253.2(TERT):c.2802G>T (p.Leu934=) rs201322872
NM_198253.2(TERT):c.2813G>A (p.Arg938Gln)
NM_198253.2(TERT):c.2823G>A (p.Glu941=) rs1554039257
NM_198253.2(TERT):c.2839T>C (p.Ser947Pro)
NM_198253.2(TERT):c.2843+6C>T rs372086160
NM_198253.2(TERT):c.2843+7G>A rs368429405
NM_198253.2(TERT):c.2844-11_2844-10delCT rs773793700
NM_198253.2(TERT):c.2882A>G (p.Asn961Ser) rs1561190919
NM_198253.2(TERT):c.2884C>T (p.Arg962Cys) rs144697790
NM_198253.2(TERT):c.2885G>A (p.Arg962His) rs759490631
NM_198253.2(TERT):c.2886C>T (p.Arg962=) rs542440625
NM_198253.2(TERT):c.2887G>A (p.Gly963Ser)
NM_198253.2(TERT):c.2895G>A (p.Lys965=) rs878855302
NM_198253.2(TERT):c.2901G>A (p.Gly967=) rs1554038813
NM_198253.2(TERT):c.2915G>A (p.Arg972His)
NM_198253.2(TERT):c.2935C>T (p.Arg979Trp) rs199422305
NM_198253.2(TERT):c.2936G>A (p.Arg979Gln) rs765566930
NM_198253.2(TERT):c.2938C>T (p.Leu980=) rs1554038808
NM_198253.2(TERT):c.2945G>T (p.Cys982Phe) rs1554038806
NM_198253.2(TERT):c.2946T>C (p.Cys982=) rs201689770
NM_198253.2(TERT):c.2961G>A (p.Leu987=) rs1453780688
NM_198253.2(TERT):c.2970+7A>G rs530914674
NM_198253.2(TERT):c.2971-10G>T rs878855303
NM_198253.2(TERT):c.2971-4_2971-3delCT
NM_198253.2(TERT):c.2971-9C>T
NM_198253.2(TERT):c.2973G>A (p.Val991=) rs1554038546
NM_198253.2(TERT):c.297C>T (p.Phe99=) rs746607875
NM_198253.2(TERT):c.2980C>T (p.Leu994Phe)
NM_198253.2(TERT):c.2987C>A (p.Thr996Lys)
NM_198253.2(TERT):c.2991G>A (p.Val997=) rs376266401
NM_198253.2(TERT):c.3006C>T (p.Tyr1002=) rs760659103
NM_198253.2(TERT):c.301T>G (p.Phe101Val) rs1554043101
NM_198253.2(TERT):c.3032+7C>T rs371500615
NM_198253.2(TERT):c.3039C>T (p.His1013=) rs33954691
NM_198253.2(TERT):c.3042A>G (p.Ala1014=)
NM_198253.2(TERT):c.3043T>C (p.Cys1015Arg) rs199422307
NM_198253.2(TERT):c.3063T>C (p.Phe1021=) rs1554038261
NM_198253.2(TERT):c.3065A>T (p.His1022Leu) rs878855304
NM_198253.2(TERT):c.3089C>G (p.Thr1030Arg) rs377419542
NM_198253.2(TERT):c.3090A>G (p.Thr1030=) rs1060504787
NM_198253.2(TERT):c.3103G>A (p.Val1035Ile)
NM_198253.2(TERT):c.3105C>T (p.Val1035=) rs181612536
NM_198253.2(TERT):c.3108_3109CT[1] (p.Ile1036_Ser1037insTer) rs1554038257
NM_198253.2(TERT):c.3110C>G (p.Ser1037Cys) rs1060503001
NM_198253.2(TERT):c.3116C>T (p.Thr1039Met)
NM_198253.2(TERT):c.3117G>A (p.Thr1039=) rs773595628
NM_198253.2(TERT):c.3118G>T (p.Ala1040Ser) rs770144114
NM_198253.2(TERT):c.3144A>G (p.Lys1048=)
NM_198253.2(TERT):c.3150G>C (p.Lys1050Asn) rs373400596
NM_198253.2(TERT):c.3154G>A (p.Ala1052Thr) rs968981940
NM_198253.2(TERT):c.3158-7C>A rs1191106139
NM_198253.2(TERT):c.3164C>T (p.Ser1055Leu) rs201330213
NM_198253.2(TERT):c.3165G>A (p.Ser1055=) rs554739019
NM_198253.2(TERT):c.316_317inv (p.Gly106Pro)
NM_198253.2(TERT):c.3172G>T (p.Ala1058Ser)
NM_198253.2(TERT):c.3176A>G (p.Lys1059Arg) rs1561186570
NM_198253.2(TERT):c.3183C>T (p.Ala1061=) rs769532174
NM_198253.2(TERT):c.3184G>A (p.Ala1062Thr) rs35719940
NM_198253.2(TERT):c.3186C>T (p.Ala1062=) rs201067706
NM_198253.2(TERT):c.3187G>A (p.Gly1063Ser)
NM_198253.2(TERT):c.3191C>T (p.Pro1064Leu) rs886059831
NM_198253.2(TERT):c.3200C>A (p.Ser1067Tyr)
NM_198253.2(TERT):c.3201C>T (p.Ser1067=) rs755223754
NM_198253.2(TERT):c.3207C>T (p.Ala1069=) rs376835357
NM_198253.2(TERT):c.3213G>T (p.Gln1071His)
NM_198253.2(TERT):c.3229G>C (p.Ala1077Pro)
NM_198253.2(TERT):c.322C>A (p.Arg108Ser) rs1478218565
NM_198253.2(TERT):c.3240C>T (p.Leu1080=) rs758469915
NM_198253.2(TERT):c.3252A>G (p.Arg1084=) rs757638312
NM_198253.2(TERT):c.3255C>T (p.His1085=) rs953571477
NM_198253.2(TERT):c.3257G>A (p.Arg1086His) rs200288187
NM_198253.2(TERT):c.3268G>A (p.Val1090Met) rs121918664
NM_198253.2(TERT):c.327G>A (p.Gly109=) rs1060504786
NM_198253.2(TERT):c.3296-4G>A rs780229179
NM_198253.2(TERT):c.3302C>T (p.Thr1101Met) rs764602705
NM_198253.2(TERT):c.3303G>A (p.Thr1101=) rs551516320
NM_198253.2(TERT):c.3304C>A (p.Gln1102Lys) rs1042447238
NM_198253.2(TERT):c.3310A>T (p.Ser1104Cys)
NM_198253.2(TERT):c.3317A>G (p.Lys1106Arg)
NM_198253.2(TERT):c.3323C>T (p.Pro1108Leu)
NM_198253.2(TERT):c.3324G>A (p.Pro1108=) rs35033501
NM_198253.2(TERT):c.3329C>T (p.Thr1110Met) rs199422306
NM_198253.2(TERT):c.332C>G (p.Pro111Arg) rs1060503007
NM_198253.2(TERT):c.3330G>A (p.Thr1110=) rs772311888
NM_198253.2(TERT):c.3332C>T (p.Thr1111Met) rs370686937
NM_198253.2(TERT):c.3333G>A (p.Thr1111=) rs200102606
NM_198253.2(TERT):c.3336G>C (p.Leu1112=) rs1554038061
NM_198253.2(TERT):c.3346G>A (p.Glu1116Lys)
NM_198253.2(TERT):c.3346G>C (p.Glu1116Gln)
NM_198253.2(TERT):c.3350C>A (p.Ala1117Asp)
NM_198253.2(TERT):c.3351C>T (p.Ala1117=) rs192377676
NM_198253.2(TERT):c.3352G>A (p.Ala1118Thr) rs756628621
NM_198253.2(TERT):c.3363G>A (p.Pro1121=) rs750020682
NM_198253.2(TERT):c.3367C>G (p.Leu1123Val) rs1554038052
NM_198253.2(TERT):c.3369G>A (p.Leu1123=) rs529179931
NM_198253.2(TERT):c.336dup (p.Glu113fs) rs1060502990
NM_198253.2(TERT):c.3386C>G (p.Thr1129Ser) rs775095158
NM_198253.2(TERT):c.3399A>G (p.Ter1133Trp) rs1554038048
NM_198253.2(TERT):c.339G>A (p.Glu113=) rs757141480
NM_198253.2(TERT):c.351C>T (p.Thr117=) rs1554043084
NM_198253.2(TERT):c.391C>G (p.Leu131Val)
NM_198253.2(TERT):c.391C>T (p.Leu131=) rs1018793583
NM_198253.2(TERT):c.392T>G (p.Leu131Arg)
NM_198253.2(TERT):c.393G>A (p.Leu131=) rs752876848
NM_198253.2(TERT):c.399G>C (p.Gly133=) rs767592753
NM_198253.2(TERT):c.403G>A (p.Gly135Arg) rs200843534
NM_198253.2(TERT):c.404G>C (p.Gly135Ala) rs1414898591
NM_198253.2(TERT):c.416T>G (p.Leu139Arg)
NM_198253.2(TERT):c.444G>C (p.Val148=) rs1314321999
NM_198253.2(TERT):c.468C>T (p.Cys156=)
NM_198253.2(TERT):c.481C>T (p.Leu161=) rs368291455
NM_198253.2(TERT):c.492C>T (p.Pro164=) rs751568040
NM_198253.2(TERT):c.508G>A (p.Val170Met) rs387907248
NM_198253.2(TERT):c.513C>T (p.Cys171=) rs890346822
NM_198253.2(TERT):c.519G>A (p.Pro173=) rs763396974
NM_198253.2(TERT):c.521_547dup (p.Pro174_Thr182dup) rs1561214640
NM_198253.2(TERT):c.522G>T (p.Pro174=) rs773784305
NM_198253.2(TERT):c.534C>T (p.Leu178=) rs370420108
NM_198253.2(TERT):c.536G>C (p.Gly179Ala) rs771590775
NM_198253.2(TERT):c.536G>T (p.Gly179Val)
NM_198253.2(TERT):c.544A>T (p.Thr182Ser) rs878855305
NM_198253.2(TERT):c.545C>G (p.Thr182Ser)
NM_198253.2(TERT):c.545C>T (p.Thr182Ile)
NM_198253.2(TERT):c.547C>G (p.Gln183Glu)
NM_198253.2(TERT):c.550G>A (p.Ala184Thr) rs773758089
NM_198253.2(TERT):c.553C>T (p.Arg185Trp)
NM_198253.2(TERT):c.554G>T (p.Arg185Leu)
NM_198253.2(TERT):c.555G>C (p.Arg185=) rs777633830
NM_198253.2(TERT):c.565C>G (p.His189Asp) rs1561214604
NM_198253.2(TERT):c.566A>C (p.His189Pro)
NM_198253.2(TERT):c.566A>G (p.His189Arg)
NM_198253.2(TERT):c.567C>A (p.His189Gln)
NM_198253.2(TERT):c.569C>T (p.Ala190Val) rs781435225
NM_198253.2(TERT):c.572G>C (p.Ser191Thr) rs11952056
NM_198253.2(TERT):c.577C>A (p.Pro193Thr) rs1271112115
NM_198253.2(TERT):c.577C>T (p.Pro193Ser)
NM_198253.2(TERT):c.579_580delinsTT (p.Arg194Ter) rs1554043041
NM_198253.2(TERT):c.581G>A (p.Arg194Gln)
NM_198253.2(TERT):c.592G>C (p.Gly198Arg) rs758442518
NM_198253.2(TERT):c.601C>T (p.Arg201Trp) rs765833936
NM_198253.2(TERT):c.602G>A (p.Arg201Gln) rs1060503003
NM_198253.2(TERT):c.604G>A (p.Ala202Thr) rs121918661
NM_198253.2(TERT):c.606C>T (p.Ala202=) rs1060504785
NM_198253.2(TERT):c.609G>C (p.Trp203Cys) rs1561214494
NM_198253.2(TERT):c.619G>A (p.Val207Ile) rs943176303
NM_198253.2(TERT):c.633G>T (p.Gly211=) rs1060504794
NM_198253.2(TERT):c.642G>A (p.Leu214=) rs549656839
NM_198253.2(TERT):c.645C>T (p.Gly215=) rs768426236
NM_198253.2(TERT):c.648_649delinsAA (p.Pro217Thr) rs1554043029
NM_198253.2(TERT):c.652G>A (p.Ala218Thr) rs1554043028
NM_198253.2(TERT):c.663G>T (p.Ala221=) rs35837567
NM_198253.2(TERT):c.669G>A (p.Arg223=) rs1060504791
NM_198253.2(TERT):c.670C>T (p.Arg224Cys)
NM_198253.2(TERT):c.673G>A (p.Gly225Arg)
NM_198253.2(TERT):c.673G>C (p.Gly225Arg) rs1060502999
NM_198253.2(TERT):c.677G>T (p.Gly226Val)
NM_198253.2(TERT):c.687C>T (p.Ser229=) rs1554043016
NM_198253.2(TERT):c.688C>T (p.Arg230Ter)
NM_198253.2(TERT):c.699G>A (p.Pro233=) rs757862712
NM_198253.2(TERT):c.702G>C (p.Leu234Phe)
NM_198253.2(TERT):c.718C>A (p.Arg240Ser) rs1252662816
NM_198253.2(TERT):c.719G>A (p.Arg240His)
NM_198253.2(TERT):c.719G>T (p.Arg240Leu)
NM_198253.2(TERT):c.724G>A (p.Ala242Thr)
NM_198253.2(TERT):c.724G>C (p.Ala242Pro) rs766054124
NM_198253.2(TERT):c.729C>T (p.Ala243=) rs762491880
NM_198253.2(TERT):c.736C>T (p.Pro246Ser) rs1379205693
NM_198253.2(TERT):c.737C>T (p.Pro246Leu)
NM_198253.2(TERT):c.739G>C (p.Glu247Gln)
NM_198253.2(TERT):c.751G>A (p.Val251Ile) rs776569822
NM_198253.2(TERT):c.759G>C (p.Gln253His)
NM_198253.2(TERT):c.769G>T (p.Ala257Ser) rs964055372
NM_198253.2(TERT):c.779G>A (p.Gly260Asp) rs148798048
NM_198253.2(TERT):c.781A>T (p.Arg261Trp) rs1554042983
NM_198253.2(TERT):c.782G>A (p.Arg261Lys) rs1554042981
NM_198253.2(TERT):c.800A>G (p.Asp267Gly) rs878855306
NM_198253.2(TERT):c.810C>T (p.Phe270=) rs369812320
NM_198253.2(TERT):c.816G>A (p.Val272=)
NM_198253.2(TERT):c.833C>T (p.Pro278Leu) rs1474106264
NM_198253.2(TERT):c.835G>A (p.Ala279Thr) rs61748181
NM_198253.2(TERT):c.838G>A (p.Glu280Lys) rs199701877
NM_198253.2(TERT):c.855G>A (p.Leu285=) rs372185671
NM_198253.2(TERT):c.859G>A (p.Gly287Ser)
NM_198253.2(TERT):c.863C>T (p.Ala288Val) rs774657340
NM_198253.2(TERT):c.867C>T (p.Leu289=) rs771194908
NM_198253.2(TERT):c.873C>T (p.Gly291=) rs1554042931
NM_198253.2(TERT):c.878G>T (p.Arg293Leu) rs1309920442
NM_198253.2(TERT):c.880C>T (p.His294Tyr) rs886059906
NM_198253.2(TERT):c.885C>T (p.Ser295=) rs367957748
NM_198253.2(TERT):c.887A>C (p.His296Pro) rs778187343
NM_198253.2(TERT):c.892T>A (p.Ser298Thr) rs1334806555
NM_198253.2(TERT):c.892_893delinsAA (p.Ser298Asn)
NM_198253.2(TERT):c.893C>G (p.Ser298Cys)
NM_198253.2(TERT):c.895G>A (p.Val299Met)
NM_198253.2(TERT):c.895G>T (p.Val299Leu)
NM_198253.2(TERT):c.897G>T (p.Val299=) rs1554042926
NM_198253.2(TERT):c.902G>A (p.Arg301His)
NM_198253.2(TERT):c.915G>A (p.Ala305=) rs2736098
NM_198253.2(TERT):c.917G>A (p.Gly306Asp) rs1554042920
NM_198253.2(TERT):c.918C>A (p.Gly306=) rs919921930
NM_198253.2(TERT):c.931T>A (p.Ser311Thr) rs1060502998
NM_198253.2(TERT):c.936G>A (p.Arg312=) rs1207164857
NM_198253.2(TERT):c.939A>G (p.Pro313=) rs1554042914
NM_198253.2(TERT):c.941C>T (p.Pro314Leu) rs1306142415
NM_198253.2(TERT):c.942A>G (p.Pro314=) rs1060504784
NM_198253.2(TERT):c.944G>A (p.Arg315His)
NM_198253.2(TERT):c.956C>T (p.Thr319Met) rs1213662764
NM_198253.2(TERT):c.968C>G (p.Pro323Arg) rs139342764
NM_198253.2(TERT):c.969G>A (p.Pro323=) rs148549782
NM_198253.2(TERT):c.970G>A (p.Val324Met) rs878855307
NM_198253.2(TERT):c.973T>G (p.Tyr325Asp)
NM_198253.2(TERT):c.999_1001CTC[1] (p.Ser335del)
NM_198253.2(TERT):c.[2371G>A;2599G>A]
Single allele
TERT:c.1710G>Y (p.Lys570Asn) rs1554041299

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