ClinVar Miner

List of variants in gene combination RTEL1, RTEL1-TNFRSF6B reported as pathogenic by Johns Hopkins Genomics, Johns Hopkins University

Minimum submission review status: Collection method:
Minimum conflict level:
Gene type:
ClinVar version:
Total variants: 3
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HGVS dbSNP gnomAD frequency
NM_001283009.2(RTEL1):c.2920C>T (p.Arg974Ter) rs398123017 0.00003
NM_001283009.2(RTEL1):c.2223del (p.Ile742fs) rs2090699166
NM_001283009.2(RTEL1):c.9del (p.Lys3_Ile4insTer) rs2146141332

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