ClinVar Miner

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

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Total variants: 7
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HGVS dbSNP
NM_000118.3(ENG):c.1019C>T (p.Pro340Leu) rs772135786
NM_000118.3(ENG):c.1712G>A (p.Arg571His) rs138799379
NM_000118.3(ENG):c.388C>T (p.Pro130Ser) rs199840979
NM_000118.3(ENG):c.7C>T (p.Arg3Cys) rs139334561
NM_001114753.3(ENG):c.1238G>A (p.Gly413Asp)
NM_001114753.3(ENG):c.1337A>G (p.Asp446Gly)
NM_001114753.3(ENG):c.572G>A (p.Gly191Asp) rs41322046

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