ClinVar Miner

List of variants in gene TERT reported by Johns Hopkins Genomics, Johns Hopkins University

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Gene type:
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Total variants: 17
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HGVS dbSNP gnomAD frequency
NM_198253.3(TERT):c.2517G>A (p.Thr839=) rs140124989 0.00178
NM_198253.3(TERT):c.2775C>T (p.His925=) rs34528119 0.00035
NM_198253.3(TERT):c.604G>A (p.Ala202Thr) rs121918661 0.00018
NM_198253.3(TERT):c.2108C>T (p.Pro703Leu) rs564647937 0.00007
NM_198253.3(TERT):c.2141C>T (p.Thr714Met) rs772441504 0.00005
NM_198253.3(TERT):c.2321G>A (p.Arg774Gln) rs1579564912 0.00001
NM_198253.3(TERT):c.2419G>A (p.Asp807Asn) rs1169312254 0.00001
NM_198253.3(TERT):c.1122_1134del (p.Thr375fs) rs1751159700
NM_198253.3(TERT):c.1151A>T (p.Gln384Leu) rs1167344136
NM_198253.3(TERT):c.1562G>T (p.Arg521Leu) rs1060503002
NM_198253.3(TERT):c.2152G>A (p.Asp718Asn) rs1579574994
NM_198253.3(TERT):c.2638G>A (p.Ala880Thr) rs1748613571
NM_198253.3(TERT):c.2936G>A (p.Arg979Gln) rs765566930
NM_198253.3(TERT):c.3026C>T (p.Ala1009Val) rs866575708
NM_198253.3(TERT):c.307_308delinsGG (p.Leu103Gly) rs1751266537
NM_198253.3(TERT):c.3334C>A (p.Leu1112Met) rs1579541689
NM_198253.3(TERT):c.345C>G (p.Phe115Leu) rs1579598699

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