ClinVar Miner

List of variants in gene ACVRL1 reported as pathogenic for not specified

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Total variants: 13
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NM_000020.2(ACVRL1):c.1055C>A (p.Ala352Asp) rs1085307415
NM_000020.2(ACVRL1):c.1435C>T (p.Arg479Ter) rs1057517944
NM_000020.2(ACVRL1):c.1436G>A (p.Arg479Gln) rs1085307426
NM_000020.2(ACVRL1):c.1450C>T (p.Arg484Trp) rs121909288
NM_000020.2(ACVRL1):c.265T>C (p.Cys89Arg) rs1555152520
NM_000020.2(ACVRL1):c.271del (p.Asp91fs) rs1555152526
NM_000020.2(ACVRL1):c.525+1G>A rs1555152710
NM_000020.2(ACVRL1):c.626-3C>G rs1555152899
NM_000020.2(ACVRL1):c.693_695CTC[1] (p.Ser233del) rs387906391
NM_000020.2(ACVRL1):c.698C>T (p.Ser233Leu) rs762773076
NM_000020.2(ACVRL1):c.741_742CA[1] (p.Thr248fs) rs1555152955
NM_001077401.2(ACVRL1):c.1232G>A (p.Arg411Gln) rs121909284
NM_001077401.2(ACVRL1):c.1451G>A (p.Arg484Gln) rs863223408

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