ClinVar Miner

List of variants in gene TERT reported as uncertain significance for Idiopathic fibrosing alveolitis, chronic form; Dyskeratosis congenita, autosomal dominant, 2

Minimum submission review status: Collection method:
Minimum conflict level:
Gene type:
ClinVar version:
Total variants: 299
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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
NM_198253.2(TERT):c.1013A>G (p.Lys338Arg)
NM_198253.2(TERT):c.1025G>A (p.Arg342Gln)
NM_198253.2(TERT):c.1046C>G (p.Ser349Cys) rs904848231
NM_198253.2(TERT):c.1051A>G (p.Arg351Gly)
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.1130G>A (p.Arg377His) rs756954938
NM_198253.2(TERT):c.1142G>C (p.Arg381Pro) rs777343359
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.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.1285G>A (p.Glu429Lys) rs1561213553
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.1315G>C (p.Glu439Gln) rs747463378
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.1372C>A (p.Pro458Thr)
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.1450G>C (p.Glu484Gln) rs1561213355
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.1546G>C (p.Asp516His)
NM_198253.2(TERT):c.1552G>T (p.Ala518Ser)
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.1569C>G (p.Ser523Arg) rs1060503014
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.1657G>A (p.Val553Ile)
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.1692G>A (p.Thr564=)
NM_198253.2(TERT):c.1730G>A (p.Arg577Gln) rs1311034283
NM_198253.2(TERT):c.1737T>A (p.Ser579Arg)
NM_198253.2(TERT):c.1760T>C (p.Ile587Thr)
NM_198253.2(TERT):c.1770-9C>T
NM_198253.2(TERT):c.1779G>T (p.Leu593Phe)
NM_198253.2(TERT):c.1786G>T (p.Val596Leu) rs1554041101
NM_198253.2(TERT):c.1805C>T (p.Ser602Leu)
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.1843G>A (p.Ala615Thr) rs112614087
NM_198253.2(TERT):c.1844C>T (p.Ala615Val) rs1554041088
NM_198253.2(TERT):c.1853C>T (p.Thr618Met)
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.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.1915G>A (p.Val639Ile) rs151121796
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.1936C>T (p.Arg646Cys) rs147521473
NM_198253.2(TERT):c.1937G>A (p.Arg646His) rs779338296
NM_198253.2(TERT):c.1951-7C>A rs1440794144
NM_198253.2(TERT):c.1951G>C (p.Ala651Pro)
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.2005C>T (p.Arg669Trp) rs372140951
NM_198253.2(TERT):c.2009C>T (p.Ala670Val)
NM_198253.2(TERT):c.2011C>T (p.Arg671Trp) rs1060503011
NM_198253.2(TERT):c.2012G>A (p.Arg671Gln)
NM_198253.2(TERT):c.2014C>T (p.Arg672Cys) rs368430301
NM_198253.2(TERT):c.2020G>A (p.Gly674Ser)
NM_198253.2(TERT):c.2021G>A (p.Gly674Asp) rs1238092784
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.2053G>A (p.Asp685Asn)
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.2081T>A (p.Val694Glu) rs1026167666
NM_198253.2(TERT):c.2087G>A (p.Arg696His)
NM_198253.2(TERT):c.2105C>T (p.Pro702Leu)
NM_198253.2(TERT):c.2108C>T (p.Pro703Leu)
NM_198253.2(TERT):c.2110C>T (p.Pro704Ser) rs199422297
NM_198253.2(TERT):c.2130+5G>A
NM_198253.2(TERT):c.2141C>T (p.Thr714Met) rs772441504
NM_198253.2(TERT):c.2165A>G (p.Gln722Arg) rs1554040902
NM_198253.2(TERT):c.2177C>T (p.Thr726Met) rs149566858
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.2221G>A (p.Val741Met) rs150819225
NM_198253.2(TERT):c.2221G>T (p.Val741Leu)
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.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.2263G>A (p.Val755Ile)
NM_198253.2(TERT):c.2267G>A (p.Arg756His)
NM_198253.2(TERT):c.2286+5G>C rs1060502997
NM_198253.2(TERT):c.2286C>T (p.His762=) rs768062052
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.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.2383-5C>G
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.2422G>A (p.Val808Ile) rs200119385
NM_198253.2(TERT):c.2432G>A (p.Arg811His)
NM_198253.2(TERT):c.2446C>A (p.His816Asn)
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.2476G>A (p.Val826Ile) rs1060503009
NM_198253.2(TERT):c.2516C>T (p.Thr839Met)
NM_198253.2(TERT):c.2527A>G (p.Ser843Gly) rs1554039732
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.2573G>A (p.Arg858Gln) rs144779807
NM_198253.2(TERT):c.2581G>A (p.Gly861Arg) rs1554039721
NM_198253.2(TERT):c.2583-3T>C
NM_198253.2(TERT):c.2591T>C (p.Leu864Pro) rs1561194110
NM_198253.2(TERT):c.2616G>C (p.Leu872Phe) rs1561194081
NM_198253.2(TERT):c.2643A>G (p.Lys881=) rs375558251
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>T (p.Arg901Trp) rs199422304
NM_198253.2(TERT):c.2702G>A (p.Arg901Gln) rs772974254
NM_198253.2(TERT):c.2734G>A (p.Glu912Lys)
NM_198253.2(TERT):c.2743G>A (p.Gly915Ser)
NM_198253.2(TERT):c.2744G>A (p.Gly915Asp) rs202033269
NM_198253.2(TERT):c.2775C>A (p.His925Gln) rs34528119
NM_198253.2(TERT):c.2776G>A (p.Gly926Ser)
NM_198253.2(TERT):c.2813G>A (p.Arg938Gln)
NM_198253.2(TERT):c.2843+6C>T rs372086160
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.2887G>A (p.Gly963Ser)
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.2945G>T (p.Cys982Phe) rs1554038806
NM_198253.2(TERT):c.2961G>A (p.Leu987=) rs1453780688
NM_198253.2(TERT):c.2971-4_2971-3delCT
NM_198253.2(TERT):c.2971-9C>T
NM_198253.2(TERT):c.2980C>T (p.Leu994Phe)
NM_198253.2(TERT):c.2987C>A (p.Thr996Lys)
NM_198253.2(TERT):c.301T>G (p.Phe101Val) rs1554043101
NM_198253.2(TERT):c.3042A>G (p.Ala1014=)
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.3103G>A (p.Val1035Ile)
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.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.3187G>A (p.Gly1063Ser)
NM_198253.2(TERT):c.3200C>A (p.Ser1067Tyr)
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.3257G>A (p.Arg1086His) rs200288187
NM_198253.2(TERT):c.3268G>A (p.Val1090Met) rs121918664
NM_198253.2(TERT):c.3302C>T (p.Thr1101Met) rs764602705
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.3329C>T (p.Thr1110Met) rs199422306
NM_198253.2(TERT):c.332C>G (p.Pro111Arg) rs1060503007
NM_198253.2(TERT):c.3332C>T (p.Thr1111Met) rs370686937
NM_198253.2(TERT):c.3346G>A (p.Glu1116Lys)
NM_198253.2(TERT):c.3350C>A (p.Ala1117Asp)
NM_198253.2(TERT):c.3352G>A (p.Ala1118Thr) rs756628621
NM_198253.2(TERT):c.3367C>G (p.Leu1123Val) rs1554038052
NM_198253.2(TERT):c.3386C>G (p.Thr1129Ser) rs775095158
NM_198253.2(TERT):c.391C>G (p.Leu131Val)
NM_198253.2(TERT):c.392T>G (p.Leu131Arg)
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.468C>T (p.Cys156=)
NM_198253.2(TERT):c.508G>A (p.Val170Met) rs387907248
NM_198253.2(TERT):c.521_547dup (p.Pro174_Thr182dup) rs1561214640
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.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.577C>A (p.Pro193Thr) rs1271112115
NM_198253.2(TERT):c.577C>T (p.Pro193Ser)
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.609G>C (p.Trp203Cys) rs1561214494
NM_198253.2(TERT):c.619G>A (p.Val207Ile) rs943176303
NM_198253.2(TERT):c.642G>A (p.Leu214=) rs549656839
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.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.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.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.816G>A (p.Val272=)
NM_198253.2(TERT):c.833C>T (p.Pro278Leu) rs1474106264
NM_198253.2(TERT):c.859G>A (p.Gly287Ser)
NM_198253.2(TERT):c.863C>T (p.Ala288Val) rs774657340
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.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.902G>A (p.Arg301His)
NM_198253.2(TERT):c.917G>A (p.Gly306Asp) rs1554042920
NM_198253.2(TERT):c.931T>A (p.Ser311Thr) rs1060502998
NM_198253.2(TERT):c.941C>T (p.Pro314Leu) rs1306142415
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.970G>A (p.Val324Met) rs878855307
NM_198253.2(TERT):c.973T>G (p.Tyr325Asp)
NM_198253.2(TERT):c.999_1001CTC[1] (p.Ser335del)
Single allele

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