ClinVar Miner

List of variants in gene ACVRL1 reported by ARUP Laboratories, Molecular Genetics and Genomics, ARUP Laboratories

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Total variants: 65
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HGVS dbSNP
NM_000020.2(ACVRL1):c.*45del rs761647766
NM_000020.2(ACVRL1):c.*58G>A rs182368657
NM_000020.2(ACVRL1):c.-5-33C>T rs2277382
NM_000020.2(ACVRL1):c.-52G>A rs573048639
NM_000020.2(ACVRL1):c.1031G>A (p.Cys344Tyr) rs28936688
NM_000020.2(ACVRL1):c.1046T>G (p.Leu349Arg) rs765895870
NM_000020.2(ACVRL1):c.1055C>A (p.Ala352Asp) rs1085307415
NM_000020.2(ACVRL1):c.1103C>T (p.Pro368Leu) rs748123979
NM_000020.2(ACVRL1):c.1115C>T (p.Thr372Ile) rs1565594920
NM_000020.2(ACVRL1):c.1118A>G (p.Lys373Arg) rs1324917279
NM_000020.2(ACVRL1):c.1120C>T (p.Arg374Trp) rs28936401
NM_000020.2(ACVRL1):c.1121G>A (p.Arg374Gln) rs1060503248
NM_000020.2(ACVRL1):c.1131A>G (p.Ala377=) rs61734313
NM_000020.2(ACVRL1):c.1135G>A (p.Glu379Lys) rs1131691686
NM_000020.2(ACVRL1):c.1144del (p.Asp382fs) rs1565595009
NM_000020.2(ACVRL1):c.1219G>A (p.Glu407Lys) rs1057521203
NM_000020.2(ACVRL1):c.1270C>T (p.Pro424Ser) rs1085307419
NM_000020.2(ACVRL1):c.1276T>A (p.Tyr426Asn) rs1565596460
NM_000020.2(ACVRL1):c.1321G>A (p.Val441Met) rs1565596498
NM_000020.2(ACVRL1):c.1355C>T (p.Pro452Leu) rs1555153848
NM_000020.2(ACVRL1):c.1377+45T>C rs706815
NM_000020.2(ACVRL1):c.1377+65A>G rs706816
NM_000020.2(ACVRL1):c.1378-30T>C rs142910573
NM_000020.2(ACVRL1):c.1385C>G (p.Ser462Ter) rs1085307422
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.1445C>T (p.Ala482Val) rs139142865
NM_000020.2(ACVRL1):c.1450C>T (p.Arg484Trp) rs121909288
NM_000020.2(ACVRL1):c.200G>A (p.Arg67Gln) rs863223414
NM_000020.2(ACVRL1):c.207C>T (p.Cys69=) rs56080682
NM_000020.2(ACVRL1):c.238C>T (p.Arg80Cys) rs756447582
NM_000020.2(ACVRL1):c.264C>G (p.Tyr88Ter) rs775754117
NM_000020.2(ACVRL1):c.265T>C (p.Cys89Arg) rs1555152520
NM_000020.2(ACVRL1):c.271del (p.Asp91fs) rs1555152526
NM_000020.2(ACVRL1):c.304G>C (p.Val102Leu) rs1555152538
NM_000020.2(ACVRL1):c.313+11C>T rs2071218
NM_000020.2(ACVRL1):c.314-35A>G rs2071219
NM_000020.2(ACVRL1):c.330G>A (p.Ser110=) rs77341011
NM_000020.2(ACVRL1):c.375C>T (p.Pro125=) rs148975811
NM_000020.2(ACVRL1):c.430C>T (p.Arg144Ter) rs758683062
NM_000020.2(ACVRL1):c.525+1G>A rs1555152710
NM_000020.2(ACVRL1):c.590C>A (p.Thr197Lys) rs1555152796
NM_000020.2(ACVRL1):c.61+22A>G rs706812
NM_000020.2(ACVRL1):c.625+164T>C rs77709482
NM_000020.2(ACVRL1):c.626-3C>G rs1555152899
NM_000020.2(ACVRL1):c.626-53C>T rs111245531
NM_000020.2(ACVRL1):c.666C>T (p.His222=) rs377194545
NM_000020.2(ACVRL1):c.677T>A (p.Val226Glu) rs1565593639
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_000020.2(ACVRL1):c.747G>A (p.Val249=) rs1058563
NM_000020.2(ACVRL1):c.760_762del (p.Asp254del) rs387906393
NM_000020.2(ACVRL1):c.822G>T (p.Trp274Cys) rs757645341
NM_000020.2(ACVRL1):c.870del (p.Arg291fs) rs1565594157
NM_000020.2(ACVRL1):c.905T>C (p.Leu302Pro) rs1565594217
NM_000020.2(ACVRL1):c.913T>C (p.Ser305Pro) rs1565594238
NM_000020.2(ACVRL1):c.914C>T (p.Ser305Phe) rs1555153126
NM_000020.2(ACVRL1):c.924C>A (p.Cys308Ter) rs1555153131
NM_000020.2(ACVRL1):c.955G>C (p.Gly319Arg) rs1085307414
NM_000020.2(ACVRL1):c.998G>T (p.Ser333Ile) rs863223413
NM_001077401.2(ACVRL1):c.1232G>A (p.Arg411Gln) rs121909284
NM_001077401.2(ACVRL1):c.1451G>A (p.Arg484Gln) rs863223408
NM_001077401.2(ACVRL1):c.625+110_625+125del rs1555152839
NM_001077401.2(ACVRL1):c.625+110_625+130del rs67833112

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