ClinVar Miner

List of variants in gene TERT reported as pathogenic for Dyskeratosis congenita autosomal dominant

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Total variants: 8
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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.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.2706G>C (p.Lys902Asn) rs121918665
NM_198253.2(TERT):c.2935C>T (p.Arg979Trp) rs199422305
TERT:c.1710G>Y (p.Lys570Asn) rs1554041299

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