ClinVar Miner

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

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Total variants: 11
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NM_000118.3(ENG):c.1220G>A (p.Ser407Asn) rs1554809516
NM_000118.3(ENG):c.1429-2A>G rs1564452759
NM_000118.3(ENG):c.1A>G (p.Met1Val) rs1060501418
NM_000118.3(ENG):c.23T>C (p.Leu8Pro) rs1564466414
NM_000118.3(ENG):c.360+5G>C rs1060501417
NM_000118.3(ENG):c.68-3C>G rs773334730
NM_000118.3(ENG):c.690-1G>A rs1554810272

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