ClinVar Miner

List of variants in gene TERT reported by Mendelics

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Total variants: 9
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HGVS dbSNP gnomAD frequency
NM_198253.3(TERT):c.1138C>T (p.Pro380Ser) rs144756946 0.00024
NM_198253.3(TERT):c.838G>A (p.Glu280Lys) rs199701877 0.00018
NM_198253.3(TERT):c.2001C>T (p.Tyr667=) rs758494245 0.00009
NM_198253.3(TERT):c.3268G>A (p.Val1090Met) rs121918664 0.00009
NM_198253.3(TERT):c.2177C>T (p.Thr726Met) rs149566858 0.00006
NM_198253.3(TERT):c.1317GGA[2] (p.Glu441del) rs377639087
NM_198253.3(TERT):c.1610G>A (p.Arg537His) rs1272053273
NM_198253.3(TERT):c.652G>A (p.Ala218Thr) rs1554043028
NM_198253.3(TERT):c.959C>T (p.Pro320Leu) rs1751178484

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