ClinVar Miner

List of variants reported as uncertain significance for Hereditary hemorrhagic telangiectasia type 1 by ARUP Laboratories, Molecular Genetics and Genomics,ARUP Laboratories

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Total variants: 9
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NM_000118.3(ENG):c.1319T>G (p.Val440Gly) rs1554809363
NM_000118.3(ENG):c.1585C>T (p.Arg529Cys) rs745316066
NM_000118.3(ENG):c.219+23G>A rs200726108
NM_000118.3(ENG):c.686C>A (p.Ala229Asp) rs971190119
NM_000118.3(ENG):c.694C>T (p.Arg232Trp) rs200372420
NM_001114753.3(ENG):c.1216C>G (p.Arg406Gly)
NM_001114753.3(ENG):c.1807G>A (p.Gly603Arg)
NM_001114753.3(ENG):c.698CGGTGA[1] (p.233TV[1]) rs1588582060

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