ClinVar Miner

List of variants in gene TERT reported as likely pathogenic for Dyskeratosis congenita

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Gene type:
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Total variants: 4
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HGVS dbSNP
NM_198253.2(TERT):c.2011C>G (p.Arg671Gly) rs1060503011
NM_198253.2(TERT):c.2058C>G (p.Ile686Met) rs745590324
NM_198253.2(TERT):c.2227C>T (p.Arg743Trp) rs1388515349
NM_198253.2(TERT):c.3150G>C (p.Lys1050Asn) rs373400596

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