ClinVar Miner

List of variants in gene TERT reported as pathogenic for Idiopathic fibrosing alveolitis, chronic form; Dyskeratosis congenita, autosomal dominant, 2

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Total variants: 8
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HGVS dbSNP
NC_000005.9:g.(?_1280263)_(1280463_?)del
NC_000005.9:g.(?_1280267)_(1280459_?)del
NM_198253.2(TERT):c.1044_1045CT[2] (p.Leu350fs) rs1554042899
NM_198253.2(TERT):c.1450G>T (p.Glu484Ter)
NM_198253.2(TERT):c.1685_1686del (p.Tyr562fs)
NM_198253.2(TERT):c.3108_3109CT[1] (p.Ile1036_Ser1037insTer) rs1554038257
NM_198253.2(TERT):c.336dup (p.Glu113fs) rs1060502990
NM_198253.2(TERT):c.688C>T (p.Arg230Ter)

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