ClinVar Miner

List of variants in gene ACVRL1 reported by OMIM

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Total variants: 16
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HGVS dbSNP
NM_000020.2(ACVRL1):c.1031G>A (p.Cys344Tyr) rs28936688
NM_000020.2(ACVRL1):c.1113_1114insG rs387906394
NM_000020.2(ACVRL1):c.1120C>T (p.Arg374Trp) rs28936401
NM_000020.2(ACVRL1):c.1127T>G (p.Met376Arg) rs28936399
NM_000020.2(ACVRL1):c.1193T>A (p.Ile398Asn) rs121909286
NM_000020.2(ACVRL1):c.1196G>C (p.Trp399Ser) rs121909289
NM_000020.2(ACVRL1):c.1231C>T (p.Arg411Trp) rs121909287
NM_000020.2(ACVRL1):c.1232G>A (p.Arg411Gln) rs121909284
NM_000020.2(ACVRL1):c.1232G>C (p.Arg411Pro) rs121909284
NM_000020.2(ACVRL1):c.1378-216C>G rs111710113
NM_000020.2(ACVRL1):c.143_147delGGGCCinsAGCCT (p.GlyAla48_49GluPro) rs387906392
NM_000020.2(ACVRL1):c.1450C>T (p.Arg484Trp) rs121909288
NM_000020.2(ACVRL1):c.150G>T (p.Trp50Cys) rs121909285
NM_000020.2(ACVRL1):c.632G>A (p.Gly211Asp) rs28936687
NM_000020.2(ACVRL1):c.693_695CTC[1] (p.Ser233del) rs387906391
NM_000020.2(ACVRL1):c.760_762delGAC (p.Asp254del) rs387906393

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