ClinVar Miner

List of variants in gene TERT reported as pathogenic by OMIM

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Total variants: 18
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HGVS dbSNP
NM_198253.2(TERT):c.1234C>T (p.His412Tyr) rs34094720
NM_198253.2(TERT):c.1892G>A (p.Arg631Gln) rs199422294
NM_198253.2(TERT):c.2080G>A (p.Val694Met) rs121918662
NM_198253.2(TERT):c.2110C>T (p.Pro704Ser) rs199422297
NM_198253.2(TERT):c.2146G>A (p.Ala716Thr) rs387907249
NM_198253.2(TERT):c.2240del (p.Val747fs) rs199422300
NM_198253.2(TERT):c.2315A>G (p.Tyr772Cys) rs121918663
NM_198253.2(TERT):c.2431C>T (p.Arg811Cys) rs199422301
NM_198253.2(TERT):c.2583-2A>C rs111576740
NM_198253.2(TERT):c.2594G>A (p.Arg865His) rs121918666
NM_198253.2(TERT):c.2701C>T (p.Arg901Trp) rs199422304
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.2768C>T (p.Pro923Leu) rs387907251
NM_198253.2(TERT):c.3268G>A (p.Val1090Met) rs121918664
NM_198253.2(TERT):c.508G>A (p.Val170Met) rs387907248
NM_198253.2(TERT):c.604G>A (p.Ala202Thr) rs121918661
NM_198253.2(TERT):c.[2371G>A;2599G>A]

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