ClinVar Miner

List of variants reported as likely benign for Telangiectasia, hereditary hemorrhagic, type 2 by NIHR Bioresource Rare Diseases, University of Cambridge

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Total variants: 3

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HGVS	dbSNP	gnomAD frequency
NM_000020.3(ACVRL1):c.88C>T (p.Pro30Ser)	rs149664056	0.00031
NM_000020.3(ACVRL1):c.948G>C (p.Glu316Asp)	rs145300204	0.00004
NM_000020.3(ACVRL1):c.1153A>C (p.Ile385Leu)	rs1205407812

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