ClinVar Miner

List of variants reported as likely pathogenic for Hereditary hemorrhagic telangiectasia type 2

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Total variants: 18
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NM_000020.2(ACVRL1):c.1031G>T (p.Cys344Phe)
NM_000020.2(ACVRL1):c.1049-1G>A rs1060503242
NM_000020.2(ACVRL1):c.1055C>A (p.Ala352Asp) rs1085307415
NM_000020.2(ACVRL1):c.1124A>G (p.Tyr375Cys) rs1085307416
NM_000020.2(ACVRL1):c.1126A>G (p.Met376Val) rs1555153277
NM_000020.2(ACVRL1):c.1129G>A (p.Ala377Thr) rs1565594969
NM_000020.2(ACVRL1):c.1220A>G (p.Glu407Gly) rs1565595121
NM_000020.2(ACVRL1):c.1246+2T>C rs1555153382
NM_000020.2(ACVRL1):c.1270C>A (p.Pro424Thr) rs1085307419
NM_000020.2(ACVRL1):c.1378-1G>A rs1060503237
NM_000020.2(ACVRL1):c.143G>A (p.Gly48Glu) rs267606632
NM_000020.2(ACVRL1):c.267C>G (p.Cys89Trp)
NM_000020.2(ACVRL1):c.526-1G>A rs1565593274
NM_000020.2(ACVRL1):c.578T>C (p.Leu193Pro) rs1555152790
NM_000020.2(ACVRL1):c.914C>T (p.Ser305Phe) rs1555153126
NM_000020.2(ACVRL1):c.925G>A (p.Gly309Ser) rs1555153133
NM_000020.2(ACVRL1):c.955G>C (p.Gly319Arg) rs1085307414
NM_000020.2(ACVRL1):c.986G>A (p.Arg329His) rs863223412

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