ClinVar Miner

List of variants in gene TERT reported by Sema4, Sema4

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Total variants: 60
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HGVS dbSNP gnomAD frequency
NM_198253.3(TERT):c.1234C>T (p.His412Tyr) rs34094720 0.00316
NM_198253.3(TERT):c.1812A>G (p.Ala604=) rs33959226 0.00255
NM_198253.3(TERT):c.969G>A (p.Pro323=) rs148549782 0.00224
NM_198253.3(TERT):c.1574-7G>A rs34846301 0.00220
NM_198253.3(TERT):c.3105C>T (p.Val1035=) rs181612536 0.00207
NM_198253.3(TERT):c.2517G>A (p.Thr839=) rs140124989 0.00178
NM_198253.3(TERT):c.534C>T (p.Leu178=) rs370420108 0.00124
NM_198253.3(TERT):c.2769G>A (p.Pro923=) rs200174990 0.00118
NM_198253.3(TERT):c.572G>C (p.Ser191Thr) rs11952056 0.00100
NM_198253.3(TERT):c.1884C>T (p.Asp628=) rs143992655 0.00088
NM_198253.3(TERT):c.1336C>A (p.Arg446Ser) rs567650961 0.00084
NM_198253.3(TERT):c.1953C>T (p.Ala651=) rs201088708 0.00054
NM_198253.3(TERT):c.3351C>T (p.Ala1117=) rs192377676 0.00052
NM_198253.3(TERT):c.1968G>A (p.Ser656=) rs368784316 0.00039
NM_198253.3(TERT):c.2775C>T (p.His925=) rs34528119 0.00035
NM_198253.3(TERT):c.2991G>A (p.Val997=) rs376266401 0.00030
NM_198253.3(TERT):c.1138C>T (p.Pro380Ser) rs144756946 0.00024
NM_198253.3(TERT):c.2391C>G (p.Ser797=) rs377216965 0.00020
NM_198253.3(TERT):c.604G>A (p.Ala202Thr) rs121918661 0.00018
NM_198253.3(TERT):c.838G>A (p.Glu280Lys) rs199701877 0.00018
NM_198253.3(TERT):c.2383-15C>T rs574645600 0.00013
NM_198253.3(TERT):c.3186C>T (p.Ala1062=) rs201067706 0.00011
NM_198253.3(TERT):c.1656C>T (p.Tyr552=) rs143789839 0.00010
NM_198253.3(TERT):c.1983G>A (p.Leu661=) rs375454175 0.00010
NM_198253.3(TERT):c.1974G>A (p.Val658=) rs778496417 0.00009
NM_198253.3(TERT):c.2001C>T (p.Tyr667=) rs758494245 0.00009
NM_198253.3(TERT):c.2019C>T (p.Pro673=) rs762941707 0.00009
NM_198253.3(TERT):c.3363G>A (p.Pro1121=) rs750020682 0.00009
NM_198253.3(TERT):c.779G>A (p.Gly260Asp) rs148798048 0.00009
NM_198253.3(TERT):c.2139G>A (p.Val713=) rs775722062 0.00008
NM_198253.3(TERT):c.1936C>T (p.Arg646Cys) rs147521473 0.00006
NM_198253.3(TERT):c.3302C>T (p.Thr1101Met) rs764602705 0.00005
NM_198253.3(TERT):c.1552G>T (p.Ala518Ser) rs551522837 0.00004
NM_198253.3(TERT):c.2255A>G (p.His752Arg) rs375699185 0.00004
NM_198253.3(TERT):c.2469-9C>T rs764029536 0.00004
NM_198253.3(TERT):c.2793C>T (p.Cys931=) rs764925909 0.00004
NM_198253.3(TERT):c.3150G>C (p.Lys1050Asn) rs373400596 0.00004
NM_198253.3(TERT):c.2145C>T (p.Gly715=) rs769467251 0.00003
NM_198253.3(TERT):c.3033-13G>A rs746630679 0.00003
NM_198253.3(TERT):c.3116C>T (p.Thr1039Met) rs763381198 0.00003
NM_198253.3(TERT):c.3267C>T (p.Tyr1089=) rs759883263 0.00003
NM_198253.3(TERT):c.1422C>T (p.Pro474=) rs139133620 0.00002
NM_198253.3(TERT):c.2228G>A (p.Arg743Gln) rs768168259 0.00002
NM_198253.3(TERT):c.672C>T (p.Arg224=) rs996032219 0.00002
NM_198253.3(TERT):c.1043G>A (p.Ser348Asn) rs1279397908 0.00001
NM_198253.3(TERT):c.1657G>A (p.Val553Ile) rs749051614 0.00001
NM_198253.3(TERT):c.1890G>T (p.Leu630=) rs1749926290 0.00001
NM_198253.3(TERT):c.2250C>T (p.Ala750=) rs941567959 0.00001
NM_198253.3(TERT):c.2355G>A (p.Pro785=) rs545260840 0.00001
NM_198253.3(TERT):c.2455C>T (p.Arg819Cys) rs746621306 0.00001
NM_198253.3(TERT):c.3018G>C (p.Leu1006=) rs941352340 0.00001
NM_198253.3(TERT):c.3157+3A>T rs369807900 0.00001
NM_198253.3(TERT):c.456G>C (p.Leu152=) rs757121533 0.00001
NM_198253.3(TERT):c.1317GGA[2] (p.Glu441del) rs377639087
NM_198253.3(TERT):c.1546G>A (p.Asp516Asn) rs1156765768
NM_198253.3(TERT):c.2149T>A (p.Tyr717Asn) rs2126640445
NM_198253.3(TERT):c.2590C>T (p.Leu864=) rs777358007
NM_198253.3(TERT):c.2844-12C>T rs199765802
NM_198253.3(TERT):c.702G>A (p.Leu234=) rs754359147
NM_198253.3(TERT):c.777G>A (p.Pro259=) rs746036694

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