ClinVar Miner

List of variants in gene TERT studied for Dyskeratosis congenita autosomal dominant

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Total variants: 13
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HGVS dbSNP
NM_198253.2(TERT):c.1378_1380del (p.Gln460del) rs199422292
NM_198253.2(TERT):c.2029G>T (p.Gly677Cys) rs199422296
NM_198253.2(TERT):c.2045G>A (p.Gly682Asp) rs199422295
NM_198253.2(TERT):c.2097C>T (p.Ala699=) rs33963617
NM_198253.2(TERT):c.2110C>T (p.Pro704Ser) rs199422297
NM_198253.2(TERT):c.2162C>G (p.Pro721Arg) rs199422299
NM_198253.2(TERT):c.2177C>T (p.Thr726Met) rs149566858
NM_198253.2(TERT):c.2178G>A (p.Thr726=) rs199422288
NM_198253.2(TERT):c.2706G>C (p.Lys902Asn) rs121918665
NM_198253.2(TERT):c.2935C>T (p.Arg979Trp) rs199422305
NM_198253.2(TERT):c.3039C>T (p.His1013=) rs33954691
NM_198253.2(TERT):c.915G>A (p.Ala305=) rs2736098
TERT:c.1710G>Y (p.Lys570Asn) rs1554041299

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