ClinVar Miner

List of variants studied for Dyskeratosis congenita by Laboratory for Molecular Medicine, Mass General Brigham Personalized Medicine

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Total variants: 3
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HGVS dbSNP gnomAD frequency
NM_001283009.1(RTEL1):c.3791G>A (p.Arg1264His) rs201540674 0.00008
NM_001283009.2(RTEL1):c.2920C>T (p.Arg974Ter) rs398123017 0.00003
NM_001283009.2(RTEL1):c.2812del (p.Leu938fs) rs1449687529

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