ClinVar Miner

List of variants in gene TERT reported as pathogenic for Pulmonary fibrosis and/or bone marrow failure, telomere-related, 1

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Total variants: 15
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NM_001193376.2(TERT):c.2654+1922A>G rs387907250
NM_198253.2(TERT):c.2315A>G (p.Tyr772Cys) rs121918663
NM_198253.2(TERT):c.2583-2A>C rs111576740
NM_198253.2(TERT):c.2768C>T (p.Pro923Leu) rs387907251
NM_198253.3(TERT):c.1234C>T (p.His412Tyr) rs34094720
NM_198253.3(TERT):c.1892G>A (p.Arg631Gln) rs199422294
NM_198253.3(TERT):c.2080G>A (p.Val694Met) rs121918662
NM_198253.3(TERT):c.2146G>A (p.Ala716Thr) rs387907249
NM_198253.3(TERT):c.2240del (p.Val747fs) rs199422300
NM_198253.3(TERT):c.2594G>A (p.Arg865His) rs121918666
NM_198253.3(TERT):c.3268G>A (p.Val1090Met) rs121918664
NM_198253.3(TERT):c.508G>A (p.Val170Met) rs387907248
NM_198253.3(TERT):c.579_580delinsTT (p.Arg194Ter) rs1554043041
NM_198253.3(TERT):c.604G>A (p.Ala202Thr) rs121918661

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