ClinVar Miner

List of variants studied for Hereditary hemorrhagic telangiectasia by Seattle Children's Hospital Molecular Genetics Laboratory, Seattle Children's Hospital

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Total variants: 3
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HGVS dbSNP gnomAD frequency
NM_001114753.3(ENG):c.1195del (p.Arg399fs) rs1131691444
NM_001114753.3(ENG):c.586T>C (p.Trp196Arg) rs2131889336
NM_002890.3(RASA1):c.3028C>T (p.Arg1010Ter) rs1762317272

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