ClinVar Miner

List of variants studied for Dyskeratosis congenita by Genetic Services Laboratory, University of Chicago

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Total variants: 6
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HGVS dbSNP gnomAD frequency
NM_001283009.2(RTEL1):c.2956C>T (p.Arg986Ter) rs373740199 0.00009
NM_001283009.2(RTEL1):c.1135+1G>A rs1555903332
NM_001283009.2(RTEL1):c.3370del (p.His1124fs) rs1555814400
NM_001283009.2(RTEL1):c.49C>T (p.Pro17Ser) rs1555899096
NM_198253.3(TERT):c.2011C>G (p.Arg671Gly) rs1060503011
NM_198253.3(TERT):c.2058C>G (p.Ile686Met) rs745590324

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