ClinVar Miner

List of variants in gene TERT reported by CeGaT Center for Human Genetics Tuebingen

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Gene type:
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Total variants: 48
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HGVS dbSNP gnomAD frequency
NM_198253.3(TERT):c.3184G>A (p.Ala1062Thr) rs35719940 0.01370
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.1849C>T (p.Leu617=) rs140951453 0.00083
NM_198253.3(TERT):c.2106G>A (p.Pro702=) rs151055240 0.00050
NM_198253.3(TERT):c.2775C>T (p.His925=) rs34528119 0.00035
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.645C>T (p.Gly215=) rs768426236 0.00014
NM_198253.3(TERT):c.1974G>A (p.Val658=) rs778496417 0.00009
NM_198253.3(TERT):c.1392C>T (p.Phe464=) rs186596886 0.00008
NM_198253.3(TERT):c.2127C>G (p.Val709=) rs765264494 0.00008
NM_198253.3(TERT):c.2256T>C (p.His752=) rs745650751 0.00007
NM_198253.3(TERT):c.1829G>A (p.Arg610Gln) rs776763536 0.00004
NM_198253.3(TERT):c.2328C>T (p.Phe776=) rs748248614 0.00004
NM_198253.3(TERT):c.2301A>G (p.Thr767=) rs374592280 0.00003
NM_198253.3(TERT):c.2751G>A (p.Thr917=) rs375200599 0.00003
NM_198253.3(TERT):c.1843G>A (p.Ala615Thr) rs112614087 0.00002
NM_198253.3(TERT):c.2061C>T (p.His687=) rs370486790 0.00002
NM_198253.3(TERT):c.1215C>T (p.Tyr405=) rs1416285081 0.00001
NM_198253.3(TERT):c.1443G>A (p.Arg481=) rs1373208248 0.00001
NM_198253.3(TERT):c.1692G>A (p.Thr564=) rs377217777 0.00001
NM_198253.3(TERT):c.1896G>A (p.Pro632=) rs140056333 0.00001
NM_198253.3(TERT):c.2367C>T (p.Ala789=) rs759014638 0.00001
NM_198253.3(TERT):c.2639C>T (p.Ala880Val) rs1748613384 0.00001
NM_198253.3(TERT):c.315C>T (p.Asp105=) rs970934345 0.00001
NM_198253.3(TERT):c.3165G>A (p.Ser1055=) rs554739019 0.00001
NM_198253.3(TERT):c.3303G>A (p.Thr1101=) rs551516320 0.00001
NM_198253.3(TERT):c.567C>T (p.His189=) rs747935528 0.00001
NC_000005.10:g.1299535G>A
NM_198253.3(TERT):c.1269C>A (p.Ala423=) rs190411812
NM_198253.3(TERT):c.1317GGA[2] (p.Glu441del) rs377639087
NM_198253.3(TERT):c.1545G>T (p.Arg515=)
NM_198253.3(TERT):c.1562G>A (p.Arg521His)
NM_198253.3(TERT):c.1713C>T (p.Asn571=) rs1750089799
NM_198253.3(TERT):c.1835C>T (p.Ala612Val)
NM_198253.3(TERT):c.1990G>C (p.Val664Leu) rs797046042
NM_198253.3(TERT):c.2565G>A (p.Ala855=) rs769077049
NM_198253.3(TERT):c.2603A>G (p.Asp868Gly) rs1748618030
NM_198253.3(TERT):c.2655G>A (p.Arg885=) rs754372863
NM_198253.3(TERT):c.2841C>T (p.Ser947=)
NM_198253.3(TERT):c.750C>T (p.Pro250=) rs761741087
NM_198253.3(TERT):c.780C>A (p.Gly260=) rs2126687848
NM_198253.3(TERT):c.930A>G (p.Thr310=)

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