ClinVar Miner

List of variants in gene ACVRL1 reported as likely benign by Invitae

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Total variants: 33
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HGVS dbSNP
NM_000020.2(ACVRL1):c.1134C>T (p.Pro378=) rs147021958
NM_000020.2(ACVRL1):c.329C>T (p.Ser110Leu) rs143872998
NM_000020.2(ACVRL1):c.465C>T (p.Ser155=) rs143735377
NM_000020.2(ACVRL1):c.484C>T (p.Leu162Phe) rs76038779
NM_000020.2(ACVRL1):c.536A>C (p.Asp179Ala) rs753792569
NM_000020.2(ACVRL1):c.666C>T (p.His222=) rs377194545
NM_000020.2(ACVRL1):c.780C>T (p.Ile260=) rs911791104
NM_000020.2(ACVRL1):c.88C>T (p.Pro30Ser) rs149664056
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.1104G>A (p.Pro368=) rs147885255
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.1323G>A (p.Val441=) rs1592226875
NM_000020.3(ACVRL1):c.1445C>T (p.Ala482Val) rs139142865
NM_000020.3(ACVRL1):c.1446G>A (p.Ala482=) rs142343727
NM_000020.3(ACVRL1):c.294C>T (p.Asn98=) rs141429164
NM_000020.3(ACVRL1):c.303G>C (p.Leu101=) rs376417482
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.626-59del rs864622702
NM_000020.3(ACVRL1):c.69T>C (p.Pro23=) rs762796409
NM_000020.3(ACVRL1):c.77C>T (p.Pro26Leu) rs199542304
NM_000020.3(ACVRL1):c.786A>G (p.Ser262=) rs200320649
NM_000020.3(ACVRL1):c.840C>T (p.His280=) rs146188863
NM_000020.3(ACVRL1):c.858C>T (p.Tyr286=) rs542810348
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
NM_000020.3(ACVRL1):c.9G>A (p.Leu3=) rs779236098

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