ClinVar Miner

List of variants reported as likely benign for Hereditary hemorrhagic telangiectasia type 1 by Invitae

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Total variants: 4
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NM_000118.3(ENG):c.1671C>T (p.Thr557=) rs369135742
NM_000118.3(ENG):c.1741+10C>T rs1554809082
NM_000118.3(ENG):c.348G>A (p.Leu116=) rs1205469132
NM_000118.3(ENG):c.627G>A (p.Leu209=) rs763087751

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