ClinVar Miner

List of variants in gene TERT reported as uncertain significance for Dyskeratosis Congenita, Recessive

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Total variants: 8
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HGVS dbSNP
NM_001193376.1(TERT):c.887A>C (p.His296Pro) rs778187343
NM_198253.2(TERT):c.*104C>T rs886059830
NM_198253.2(TERT):c.*230T>C rs751808151
NM_198253.2(TERT):c.2654+10G>A rs375473823
NM_198253.2(TERT):c.2781A>G (p.Leu927=) rs370292237
NM_198253.2(TERT):c.3191C>T (p.Pro1064Leu) rs886059831
NM_198253.2(TERT):c.663G>T (p.Ala221=) rs35837567
NM_198253.2(TERT):c.880C>T (p.His294Tyr) rs886059906

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