ClinVar Miner

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

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Total variants: 7
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NM_032957.4(RTEL1):c.1207+1G>A rs1555903332
NM_032957.4(RTEL1):c.3028C>T rs373740199
NM_032957.4(RTEL1):c.3442del (p.His1148fs) rs1555814400
NM_032957.4(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
NM_198253.3(TERT):c.3150G>C (p.Lys1050Asn) rs373400596

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