ClinVar Miner

List of variants reported as uncertain significance for Hereditary hemorrhagic telangiectasia type 1 by NIHR Bioresource Rare Diseases, University of Cambridge

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Total variants: 5
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HGVS dbSNP
NM_001114753.3(ENG):c.219+22C>T rs370257876
NM_001114753.3(ENG):c.239T>C (p.Leu80Pro)
NM_001114753.3(ENG):c.35T>C (p.Leu12Pro)
NM_001114753.3(ENG):c.497A>C (p.Gln166Pro)
NM_001114753.3(ENG):c.776T>G (p.Val259Gly)

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