ClinVar Miner

List of variants in gene combination RTEL1, RTEL1-TNFRSF6B reported as pathogenic by Genetic Services Laboratory, University of Chicago

Minimum submission review status: Collection method:
Minimum conflict level:
Gene type:
ClinVar version:
Total variants: 4
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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.3109+1G>C rs2145471794
NM_001283009.2(RTEL1):c.3370del (p.His1124fs) rs1555814400

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