ClinVar Miner

List of variants in gene ACVRL1 studied for not provided

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Gene type:
ClinVar version:
Total variants: 193
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HGVS dbSNP gnomAD frequency
NM_000020.3(ACVRL1):c.-5-468C>T rs1700159 0.79646
NM_000020.3(ACVRL1):c.314-35A>G rs2071219 0.46706
NM_000020.3(ACVRL1):c.1378-248T>G rs2656315 0.32172
NM_000020.3(ACVRL1):c.1377+297T>A rs1150051 0.32017
NM_000020.3(ACVRL1):c.-5-465A>G rs1690215 0.31904
NM_000020.3(ACVRL1):c.1378-405A>G rs813471 0.31751
NM_000020.3(ACVRL1):c.1377+45T>C rs706815 0.31560
NM_000020.3(ACVRL1):c.1377+65A>G rs706816 0.31557
NM_000020.3(ACVRL1):c.-5-227C>G rs2277381 0.08706
NM_000020.3(ACVRL1):c.1378-155T>G rs2277383 0.08548
NM_000020.3(ACVRL1):c.625+164T>C rs77709482 0.07925
NM_000020.3(ACVRL1):c.772+305T>A rs150466281 0.07906
NM_000020.3(ACVRL1):c.1378-339T>G rs74094826 0.05144
NM_000020.3(ACVRL1):c.1377+326G>T rs11609817 0.04840
NM_000020.3(ACVRL1):c.1378-217A>G rs772003 0.04704
NM_000020.3(ACVRL1):c.61+22A>G rs706812 0.03730
NM_000020.3(ACVRL1):c.1247-195C>T rs118190956 0.02531
NM_000020.3(ACVRL1):c.1247-230T>C rs113586490 0.02223
NM_000020.3(ACVRL1):c.626-53C>T rs111245531 0.02158
NM_000020.3(ACVRL1):c.1378-30T>C rs142910573 0.02009
NM_000020.3(ACVRL1):c.*58G>A rs182368657 0.01817
NM_000020.3(ACVRL1):c.314-65G>C rs113559681 0.01773
NM_000020.3(ACVRL1):c.1378-216C>T rs111710113 0.01212
NM_000020.3(ACVRL1):c.1131A>G (p.Ala377=) rs61734313 0.00959
NM_000020.3(ACVRL1):c.62-69G>T rs114852790 0.00802
NM_000020.3(ACVRL1):c.625+146C>T rs116471331 0.00696
NM_000020.3(ACVRL1):c.772+24C>T rs151169686 0.00421
NM_000020.3(ACVRL1):c.-52G>A rs573048639 0.00390
NM_000020.3(ACVRL1):c.314-100G>A rs543716448 0.00390
NM_000020.3(ACVRL1):c.*2281G>T rs114323941 0.00374
NM_000020.3(ACVRL1):c.1445C>T (p.Ala482Val) rs139142865 0.00203
NM_000020.3(ACVRL1):c.484C>T (p.Leu162Phe) rs76038779 0.00088
NM_000020.3(ACVRL1):c.*2277A>T rs529631289 0.00069
NM_000020.3(ACVRL1):c.207C>T (p.Cys69=) rs56080682 0.00063
NM_000020.3(ACVRL1):c.666C>T (p.His222=) rs377194545 0.00034
NM_000020.3(ACVRL1):c.1122G>T (p.Arg374=) rs187902433 0.00024
NM_000020.3(ACVRL1):c.465C>T (p.Ser155=) rs143735377 0.00013
NM_000020.3(ACVRL1):c.917C>T (p.Ala306Val) rs150038846 0.00013
NM_000020.3(ACVRL1):c.890A>G (p.His297Arg) rs139380315 0.00011
NM_000020.3(ACVRL1):c.9G>A (p.Leu3=) rs779236098 0.00009
NM_000020.3(ACVRL1):c.1360C>T (p.Arg454Trp) rs373133784 0.00006
NM_000020.3(ACVRL1):c.376G>A (p.Val126Met) rs369146413 0.00006
NM_000020.3(ACVRL1):c.682G>A (p.Val228Ile) rs138048445 0.00006
NM_000020.3(ACVRL1):c.759C>T (p.His253=) rs374020751 0.00006
NM_000020.3(ACVRL1):c.82C>T (p.Arg28Trp) rs761650726 0.00004
NM_000020.3(ACVRL1):c.196C>T (p.His66Tyr) rs1480110873 0.00002
NM_000020.3(ACVRL1):c.208G>A (p.Gly70Arg) rs1439294840 0.00002
NM_000020.3(ACVRL1):c.511G>A (p.Asp171Asn) rs369436815 0.00002
NM_000020.3(ACVRL1):c.-4G>T rs753902476 0.00001
NM_000020.3(ACVRL1):c.1103C>T (p.Pro368Leu) rs748123979 0.00001
NM_000020.3(ACVRL1):c.1118A>G (p.Lys373Arg) rs1324917279 0.00001
NM_000020.3(ACVRL1):c.1121G>A (p.Arg374Gln) rs1060503248 0.00001
NM_000020.3(ACVRL1):c.1135G>A (p.Glu379Lys) rs1131691686 0.00001
NM_000020.3(ACVRL1):c.1232G>A (p.Arg411Gln) rs121909284 0.00001
NM_000020.3(ACVRL1):c.139C>T (p.Arg47Trp) rs768072967 0.00001
NM_000020.3(ACVRL1):c.1436G>A (p.Arg479Gln) rs1085307426 0.00001
NM_000020.3(ACVRL1):c.1446G>A (p.Ala482=) rs142343727 0.00001
NM_000020.3(ACVRL1):c.1450C>T (p.Arg484Trp) rs121909288 0.00001
NM_000020.3(ACVRL1):c.199C>T (p.Arg67Trp) rs1085307405 0.00001
NM_000020.3(ACVRL1):c.236G>A (p.Gly79Glu) rs1283365095 0.00001
NM_000020.3(ACVRL1):c.238C>T (p.Arg80Cys) rs756447582 0.00001
NM_000020.3(ACVRL1):c.253G>A (p.Val85Ile) rs373779426 0.00001
NM_000020.3(ACVRL1):c.303G>A (p.Leu101=) rs376417482 0.00001
NM_000020.3(ACVRL1):c.598C>T (p.Arg200Trp) rs999380946 0.00001
NM_000020.3(ACVRL1):c.599G>A (p.Arg200Gln) rs1018788708 0.00001
NM_000020.3(ACVRL1):c.87C>T (p.Gly29=) rs139486404 0.00001
NM_000020.3(ACVRL1):c.916del (p.Ala306fs) rs1064796070 0.00001
NC_000012.11:g.52308281_52308282insAlu
NM_000020.3(ACVRL1):c.-5-17C>T
NM_000020.3(ACVRL1):c.1003A>C (p.Asn335His) rs2139073985
NM_000020.3(ACVRL1):c.1027C>T (p.Gln343Ter) rs1064796530
NM_000020.3(ACVRL1):c.1031G>A (p.Cys344Tyr) rs28936688
NM_000020.3(ACVRL1):c.1031_1032dup (p.Cys345fs) rs863223417
NM_000020.3(ACVRL1):c.1034G>A (p.Cys345Tyr) rs1592224431
NM_000020.3(ACVRL1):c.1046T>C (p.Leu349Pro) rs765895870
NM_000020.3(ACVRL1):c.1048+1G>A rs2139074368
NM_000020.3(ACVRL1):c.1048+2T>G rs1555153172
NM_000020.3(ACVRL1):c.1049-1G>A rs1060503242
NM_000020.3(ACVRL1):c.1049G>T (p.Gly350Val)
NM_000020.3(ACVRL1):c.1073del (p.Gly358fs) rs2139075930
NM_000020.3(ACVRL1):c.1089C>T (p.Asp363=) rs1225049658
NM_000020.3(ACVRL1):c.1115C>T (p.Thr372Ile) rs1565594920
NM_000020.3(ACVRL1):c.1120C>T (p.Arg374Trp) rs28936401
NM_000020.3(ACVRL1):c.1122del (p.Tyr375fs) rs863223418
NM_000020.3(ACVRL1):c.1126A>G (p.Met376Val) rs1555153277
NM_000020.3(ACVRL1):c.1144del (p.Asp382fs) rs1565595009
NM_000020.3(ACVRL1):c.1198G>A (p.Ala400Thr)
NM_000020.3(ACVRL1):c.1214T>C (p.Leu405Pro)
NM_000020.3(ACVRL1):c.1219G>A (p.Glu407Lys) rs1057521203
NM_000020.3(ACVRL1):c.1221G>T (p.Glu407Asp) rs1565595129
NM_000020.3(ACVRL1):c.1231C>T (p.Arg411Trp) rs121909287
NM_000020.3(ACVRL1):c.1246G>A (p.Gly416Ser) rs1592225112
NM_000020.3(ACVRL1):c.1251C>T (p.Ile417=)
NM_000020.3(ACVRL1):c.1276T>A (p.Tyr426Asn) rs1565596460
NM_000020.3(ACVRL1):c.1285G>T (p.Val429Leu) rs1131691286
NM_000020.3(ACVRL1):c.1321G>A (p.Val441Met) rs1565596498
NM_000020.3(ACVRL1):c.1324G>A (p.Val442Met) rs1085307421
NM_000020.3(ACVRL1):c.1336C>T (p.Gln446Ter) rs1064794217
NM_000020.3(ACVRL1):c.1346C>T (p.Pro449Leu) rs2139084385
NM_000020.3(ACVRL1):c.1347dup (p.Thr450fs)
NM_000020.3(ACVRL1):c.1377+1G>A rs863223406
NM_000020.3(ACVRL1):c.1377+249TG[18] rs55945390
NM_000020.3(ACVRL1):c.1377+249TG[19] rs55945390
NM_000020.3(ACVRL1):c.1377+249TG[21] rs55945390
NM_000020.3(ACVRL1):c.1377+249TG[22] rs55945390
NM_000020.3(ACVRL1):c.1377+249TG[23] rs55945390
NM_000020.3(ACVRL1):c.1378-248del rs202089535
NM_000020.3(ACVRL1):c.1385C>G (p.Ser462Ter) rs1085307422
NM_000020.3(ACVRL1):c.139_140insCG (p.Arg47fs) rs1555152455
NM_000020.3(ACVRL1):c.1406_1413dup (p.Trp472fs) rs1057519168
NM_000020.3(ACVRL1):c.140G>A (p.Arg47Gln)
NM_000020.3(ACVRL1):c.140G>C (p.Arg47Pro) rs774389618
NM_000020.3(ACVRL1):c.1415G>A (p.Trp472Ter) rs1555154144
NM_000020.3(ACVRL1):c.1416G>C (p.Trp472Cys) rs1060503243
NM_000020.3(ACVRL1):c.1435C>T (p.Arg479Ter) rs1057517944
NM_000020.3(ACVRL1):c.1451G>A (p.Arg484Gln) rs863223408
NM_000020.3(ACVRL1):c.1457AGA[1] (p.Lys487del) rs1940959480
NM_000020.3(ACVRL1):c.145dup (p.Ala49fs) rs863223415
NM_000020.3(ACVRL1):c.1466T>C (p.Leu489Pro) rs1057523573
NM_000020.3(ACVRL1):c.1468C>T (p.Gln490Ter) rs1085307429
NM_000020.3(ACVRL1):c.1507C>T (p.Gln503Ter) rs1565597552
NM_000020.3(ACVRL1):c.150G>T (p.Trp50Cys) rs121909285
NM_000020.3(ACVRL1):c.152G>A (p.Cys51Tyr) rs863223409
NM_000020.3(ACVRL1):c.154A>G (p.Thr52Ala) rs1131691346
NM_000020.3(ACVRL1):c.158T>C (p.Val53Ala)
NM_000020.3(ACVRL1):c.199C>G (p.Arg67Gly) rs1085307405
NM_000020.3(ACVRL1):c.200G>A (p.Arg67Gln) rs863223414
NM_000020.3(ACVRL1):c.206G>T (p.Cys69Phe) rs1318118188
NM_000020.3(ACVRL1):c.225G>C (p.Glu75Asp) rs1940737426
NM_000020.3(ACVRL1):c.239_240insT (p.Thr82fs)
NM_000020.3(ACVRL1):c.259C>G (p.His87Asp) rs1430932447
NM_000020.3(ACVRL1):c.264C>G (p.Tyr88Ter) rs775754117
NM_000020.3(ACVRL1):c.266G>T (p.Cys89Phe) rs1060503234
NM_000020.3(ACVRL1):c.269G>A (p.Cys90Tyr) rs863223410
NM_000020.3(ACVRL1):c.295_299del (p.Val99fs) rs1085307872
NM_000020.3(ACVRL1):c.302del (p.Leu101fs) rs1064794791
NM_000020.3(ACVRL1):c.400G>A (p.Ala134Thr) rs886653596
NM_000020.3(ACVRL1):c.406_409del (p.Gly136fs) rs863223416
NM_000020.3(ACVRL1):c.430C>T (p.Arg144Ter) rs758683062
NM_000020.3(ACVRL1):c.439C>T (p.Gln147Ter) rs1555152650
NM_000020.3(ACVRL1):c.466G>A (p.Glu156Lys)
NM_000020.3(ACVRL1):c.525+2T>C rs2139067969
NM_000020.3(ACVRL1):c.526-4C>T
NM_000020.3(ACVRL1):c.526-6C>G rs1438077609
NM_000020.3(ACVRL1):c.540_541insA (p.Asp181fs) rs1555152774
NM_000020.3(ACVRL1):c.543_544del (p.Asp181fs)
NM_000020.3(ACVRL1):c.546C>A (p.Cys182Ter) rs2139068677
NM_000020.3(ACVRL1):c.548C>A (p.Thr183Asn)
NM_000020.3(ACVRL1):c.578T>C (p.Leu193Pro) rs1555152790
NM_000020.3(ACVRL1):c.590C>A (p.Thr197Lys) rs1555152796
NM_000020.3(ACVRL1):c.593T>C (p.Val198Ala) rs886043123
NM_000020.3(ACVRL1):c.601C>T (p.Gln201Ter) rs1318446539
NM_000020.3(ACVRL1):c.61+1G>T
NM_000020.3(ACVRL1):c.62-196C>G rs35960167
NM_000020.3(ACVRL1):c.625+110_625+130del rs67833112
NM_000020.3(ACVRL1):c.626-3C>G rs1555152899
NM_000020.3(ACVRL1):c.626-59G>T rs537246355
NM_000020.3(ACVRL1):c.639T>G (p.Tyr213Ter) rs962224649
NM_000020.3(ACVRL1):c.641del (p.Gly214fs) rs1555152909
NM_000020.3(ACVRL1):c.643G>A (p.Glu215Lys) rs754283265
NM_000020.3(ACVRL1):c.677T>A (p.Val226Glu) rs1565593639
NM_000020.3(ACVRL1):c.693CTC[1] (p.Ser233del) rs387906391
NM_000020.3(ACVRL1):c.698C>T (p.Ser233Leu) rs762773076
NM_000020.3(ACVRL1):c.706G>A (p.Glu236Lys) rs1592223490
NM_000020.3(ACVRL1):c.760_762del (p.Asp254del) rs387906393
NM_000020.3(ACVRL1):c.772+132TTTAA[10] rs55800652
NM_000020.3(ACVRL1):c.772+132TTTAA[11] rs55800652
NM_000020.3(ACVRL1):c.772+132TTTAA[8] rs55800652
NM_000020.3(ACVRL1):c.772+1G>C rs1940785759
NM_000020.3(ACVRL1):c.773-292G>A rs117087866
NM_000020.3(ACVRL1):c.822G>T (p.Trp274Cys) rs757645341
NM_000020.3(ACVRL1):c.830C>A (p.Thr277Lys) rs750085854
NM_000020.3(ACVRL1):c.841G>T (p.Glu281Ter) rs779485996
NM_000020.3(ACVRL1):c.847_853delinsTT (p.Gly283fs) rs1940804402
NM_000020.3(ACVRL1):c.851C>T (p.Ser284Phe) rs768643771
NM_000020.3(ACVRL1):c.86del (p.Gly29fs) rs1940729491
NM_000020.3(ACVRL1):c.870del (p.Arg291fs) rs1565594157
NM_000020.3(ACVRL1):c.880del (p.Leu294fs)
NM_000020.3(ACVRL1):c.905T>C (p.Leu302Pro) rs1565594217
NM_000020.3(ACVRL1):c.905T>G (p.Leu302Arg)
NM_000020.3(ACVRL1):c.907G>C (p.Ala303Pro) rs1565594220
NM_000020.3(ACVRL1):c.913T>C (p.Ser305Pro) rs1565594238
NM_000020.3(ACVRL1):c.916_917delinsAA (p.Ala306Lys) rs1060503244
NM_000020.3(ACVRL1):c.920C>A (p.Ala307Glu) rs863223411
NM_000020.3(ACVRL1):c.924C>A (p.Cys308Ter) rs1555153131
NM_000020.3(ACVRL1):c.950T>C (p.Ile317Thr) rs1085307413
NM_000020.3(ACVRL1):c.955G>C (p.Gly319Arg) rs1085307414
NM_000020.3(ACVRL1):c.978T>C (p.Ile326=) rs746827105
NM_000020.3(ACVRL1):c.979G>C (p.Ala327Pro) rs1940810597
NM_000020.3(ACVRL1):c.982C>G (p.His328Asp) rs1592224291
NM_000020.3(ACVRL1):c.983A>C (p.His328Pro) rs2139073840
NM_000020.3(ACVRL1):c.986G>A (p.Arg329His) rs863223412
NM_000020.3(ACVRL1):c.998G>T (p.Ser333Ile) rs863223413

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