ClinVar Miner

List of variants in gene ACVRL1 reported as likely benign for not provided

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Total variants: 19
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HGVS dbSNP
NM_000020.2(ACVRL1):c.*45del rs761647766
NM_000020.2(ACVRL1):c.329C>T (p.Ser110Leu) rs143872998
NM_000020.2(ACVRL1):c.626-59G>T rs537246355
NM_000020.2(ACVRL1):c.666C>T (p.His222=) rs377194545
NM_000020.3(ACVRL1):c.1041C>G (p.Ala347=) rs750685021
NM_000020.3(ACVRL1):c.1089C>T (p.Asp363=) rs1225049658
NM_000020.3(ACVRL1):c.1098C>T (p.Asn366=) rs779118678
NM_000020.3(ACVRL1):c.1239C>T (p.Ile413=) rs755557465
NM_000020.3(ACVRL1):c.1275C>T (p.Phe425=) rs191763644
NM_000020.3(ACVRL1):c.1446G>A (p.Ala482=) rs142343727
NM_000020.3(ACVRL1):c.313+7C>G rs374171506
NM_000020.3(ACVRL1):c.573C>G (p.Pro191=) rs1404977364
NM_000020.3(ACVRL1):c.625+10G>A rs1592223042
NM_000020.3(ACVRL1):c.69T>C (p.Pro23=) rs762796409
NM_000020.3(ACVRL1):c.840C>T (p.His280=) rs146188863
NM_000020.3(ACVRL1):c.888C>G (p.Pro296=) rs776879586
NM_000020.3(ACVRL1):c.918G>C (p.Ala306=) rs1359095143
NM_000020.3(ACVRL1):c.927_928delinsAT (p.Gly309_Leu310=) rs1592224196
NM_000020.3(ACVRL1):c.978T>C (p.Ile326=) rs746827105

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