ClinVar Miner

List of variants in gene combination RTEL1, RTEL1-TNFRSF6B reported as pathogenic for Dyskeratosis congenita

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Gene type:
ClinVar version:
Total variants: 6
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NM_001283009.1(RTEL1):c.3791G>A (p.Arg1264His) rs201540674
NM_016434.3(RTEL1):c.2920C>T (p.Arg974Ter) rs398123017
NM_032957.4(RTEL1):c.102+2T>C rs1555899111
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

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