ClinVar Miner

List of variants in gene TERT reported as uncertain significance by Laboratory for Molecular Medicine, Mass General Brigham Personalized Medicine

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Total variants: 9
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HGVS dbSNP gnomAD frequency
NM_198253.3(TERT):c.3184G>A (p.Ala1062Thr) rs35719940 0.01370
NM_198253.3(TERT):c.604G>A (p.Ala202Thr) rs121918661 0.00018
NM_198253.3(TERT):c.1604G>A (p.Arg535His) rs768398955 0.00001
NM_198253.3(TERT):c.2225G>A (p.Arg742His) rs727503468 0.00001
NM_198253.3(TERT):c.1590G>C (p.Pro530=) rs1396912668
NM_198253.3(TERT):c.1793T>C (p.Leu598Pro) rs1579577379
NM_198253.3(TERT):c.2575C>T (p.Arg859Trp) rs876658018
NM_198253.3(TERT):c.2708C>T (p.Thr903Ile) rs727505125
NM_198253.3(TERT):c.2936G>A (p.Arg979Gln) rs765566930

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