ClinVar Miner

List of variants in gene ACVRL1 reported as likely pathogenic for Telangiectasia, hereditary hemorrhagic, type 2

Minimum submission review status: Collection method:
Minimum conflict level:
Gene type:
ClinVar version:
Total variants: 113
Download table as spreadsheet
HGVS dbSNP gnomAD frequency
NM_000020.3(ACVRL1):c.1157G>A (p.Arg386His) rs141764916 0.00016
NM_000020.3(ACVRL1):c.1232G>A (p.Arg411Gln) rs121909284 0.00001
NM_000020.3(ACVRL1):c.1436G>A (p.Arg479Gln) rs1085307426 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.598C>T (p.Arg200Trp) rs999380946 0.00001
NM_000020.3(ACVRL1):c.1004A>G (p.Asn335Ser) rs1060503247
NM_000020.3(ACVRL1):c.1004A>T (p.Asn335Ile) rs1060503247
NM_000020.3(ACVRL1):c.1007T>A (p.Val336Glu) rs1565594467
NM_000020.3(ACVRL1):c.1010T>C (p.Leu337Pro) rs1592224349
NM_000020.3(ACVRL1):c.1030_1048+18del rs1940812948
NM_000020.3(ACVRL1):c.1037_1039del (p.Ile346_Ala347delinsThr) rs1940813707
NM_000020.3(ACVRL1):c.1039G>C (p.Ala347Pro)
NM_000020.3(ACVRL1):c.1044C>G (p.Asp348Glu)
NM_000020.3(ACVRL1):c.1048+5G>A
NM_000020.3(ACVRL1):c.1048G>A (p.Gly350Ser)
NM_000020.3(ACVRL1):c.1049-1G>A rs1060503242
NM_000020.3(ACVRL1):c.1049-1G>T rs1060503242
NM_000020.3(ACVRL1):c.1055C>T (p.Ala352Val)
NM_000020.3(ACVRL1):c.106T>C (p.Cys36Arg) rs2139064443
NM_000020.3(ACVRL1):c.1120C>G (p.Arg374Gly) rs28936401
NM_000020.3(ACVRL1):c.1120C>T (p.Arg374Trp) rs28936401
NM_000020.3(ACVRL1):c.1121G>C (p.Arg374Pro) rs1060503248
NM_000020.3(ACVRL1):c.1124A>T (p.Tyr375Phe) rs1085307416
NM_000020.3(ACVRL1):c.1130C>T (p.Ala377Val)
NM_000020.3(ACVRL1):c.1132C>T (p.Pro378Ser) rs959973779
NM_000020.3(ACVRL1):c.1133C>G (p.Pro378Arg) rs1940833669
NM_000020.3(ACVRL1):c.1136A>G (p.Glu379Gly)
NM_000020.3(ACVRL1):c.1136A>T (p.Glu379Val)
NM_000020.3(ACVRL1):c.1142T>C (p.Leu381Pro) rs1085307417
NM_000020.3(ACVRL1):c.1188_1189delinsAA (p.Asp397Asn) rs1592225036
NM_000020.3(ACVRL1):c.1190A>T (p.Asp397Val) rs1592225044
NM_000020.3(ACVRL1):c.1195T>C (p.Trp399Arg) rs1085307418
NM_000020.3(ACVRL1):c.1198G>C (p.Ala400Pro) rs2139076978
NM_000020.3(ACVRL1):c.1199C>A (p.Ala400Asp) rs2139076990
NM_000020.3(ACVRL1):c.1218G>T (p.Trp406Cys) rs2139077046
NM_000020.3(ACVRL1):c.1219G>A (p.Glu407Lys) rs1057521203
NM_000020.3(ACVRL1):c.1220A>G (p.Glu407Gly) rs1565595121
NM_000020.3(ACVRL1):c.122G>A (p.Cys41Tyr) rs1184716348
NM_000020.3(ACVRL1):c.1231C>T (p.Arg411Trp) rs121909287
NM_000020.3(ACVRL1):c.1231_1246+4dup rs1940838178
NM_000020.3(ACVRL1):c.1246+5G>A rs1940838881
NM_000020.3(ACVRL1):c.1247-1G>C rs2139083899
NM_000020.3(ACVRL1):c.1261T>A (p.Tyr421Asn)
NM_000020.3(ACVRL1):c.1270C>A (p.Pro424Thr) rs1085307419
NM_000020.3(ACVRL1):c.1270C>G (p.Pro424Ala) rs1085307419
NM_000020.3(ACVRL1):c.1298C>A (p.Pro433His) rs1940907270
NM_000020.3(ACVRL1):c.1313T>C (p.Met438Thr) rs1555153828
NM_000020.3(ACVRL1):c.1334_1335del (p.Asp445fs) rs2139084307
NM_000020.3(ACVRL1):c.1346C>T (p.Pro449Leu) rs2139084385
NM_000020.3(ACVRL1):c.1376del (p.Pro459fs)
NM_000020.3(ACVRL1):c.1378-1G>A rs1060503237
NM_000020.3(ACVRL1):c.1427C>G (p.Pro476Arg) rs1940955941
NM_000020.3(ACVRL1):c.1438C>A (p.Leu480Ile)
NM_000020.3(ACVRL1):c.1457AGA[1] (p.Lys487del) rs1940959480
NM_000020.3(ACVRL1):c.1459A>C (p.Lys487Gln) rs1940959530
NM_000020.3(ACVRL1):c.1460A>C (p.Lys487Thr) rs1085307428
NM_000020.3(ACVRL1):c.148T>C (p.Trp50Arg) rs1555152468
NM_000020.3(ACVRL1):c.148T>G (p.Trp50Gly) rs1555152468
NM_000020.3(ACVRL1):c.151T>A (p.Cys51Ser)
NM_000020.3(ACVRL1):c.151T>G (p.Cys51Gly) rs2139064874
NM_000020.3(ACVRL1):c.180del (p.Arg61fs)
NM_000020.3(ACVRL1):c.200G>A (p.Arg67Gln) rs863223414
NM_000020.3(ACVRL1):c.205T>G (p.Cys69Gly)
NM_000020.3(ACVRL1):c.206G>T (p.Cys69Phe) rs1318118188
NM_000020.3(ACVRL1):c.265T>C (p.Cys89Arg) rs1555152520
NM_000020.3(ACVRL1):c.265T>G (p.Cys89Gly) rs1555152520
NM_000020.3(ACVRL1):c.266G>T (p.Cys89Phe) rs1060503234
NM_000020.3(ACVRL1):c.267C>G (p.Cys89Trp) rs1592221930
NM_000020.3(ACVRL1):c.269G>A (p.Cys90Tyr) rs863223410
NM_000020.3(ACVRL1):c.269G>T (p.Cys90Phe) rs863223410
NM_000020.3(ACVRL1):c.270C>A (p.Cys90Ter) rs556168617
NM_000020.3(ACVRL1):c.270C>G (p.Cys90Trp)
NM_000020.3(ACVRL1):c.286A>G (p.Asn96Asp) rs2139065803
NM_000020.3(ACVRL1):c.500C>G (p.Ser167Cys)
NM_000020.3(ACVRL1):c.526G>T (p.Asp176Tyr)
NM_000020.3(ACVRL1):c.557G>T (p.Ser186Ile) rs1288729113
NM_000020.3(ACVRL1):c.55dup (p.Thr19fs)
NM_000020.3(ACVRL1):c.578T>C (p.Leu193Pro) rs1555152790
NM_000020.3(ACVRL1):c.61+1G>A
NM_000020.3(ACVRL1):c.61+1G>T
NM_000020.3(ACVRL1):c.625+1G>A
NM_000020.3(ACVRL1):c.632G>A (p.Gly211Asp) rs28936687
NM_000020.3(ACVRL1):c.643G>A (p.Glu215Lys) rs754283265
NM_000020.3(ACVRL1):c.686A>G (p.Lys229Arg)
NM_000020.3(ACVRL1):c.686A>T (p.Lys229Met) rs1940782891
NM_000020.3(ACVRL1):c.687G>C (p.Lys229Asn) rs1940782986
NM_000020.3(ACVRL1):c.688A>T (p.Ile230Phe)
NM_000020.3(ACVRL1):c.698C>T (p.Ser233Leu) rs762773076
NM_000020.3(ACVRL1):c.773-3C>G rs1592223964
NM_000020.3(ACVRL1):c.812C>A (p.Thr271Lys) rs2139072795
NM_000020.3(ACVRL1):c.818T>C (p.Leu273Pro) rs1085307409
NM_000020.3(ACVRL1):c.830C>A (p.Thr277Lys) rs750085854
NM_000020.3(ACVRL1):c.830C>G (p.Thr277Arg) rs750085854
NM_000020.3(ACVRL1):c.830C>T (p.Thr277Met)
NM_000020.3(ACVRL1):c.848G>T (p.Gly283Val) rs1940804461
NM_000020.3(ACVRL1):c.851C>T (p.Ser284Phe) rs768643771
NM_000020.3(ACVRL1):c.853C>T (p.Leu285Phe) rs1085307410
NM_000020.3(ACVRL1):c.863T>C (p.Phe288Ser) rs1940804969
NM_000020.3(ACVRL1):c.889del (p.His297fs) rs1060503245
NM_000020.3(ACVRL1):c.905T>C (p.Leu302Pro) rs1565594217
NM_000020.3(ACVRL1):c.914C>T (p.Ser305Phe) rs1555153126
NM_000020.3(ACVRL1):c.916G>C (p.Ala306Pro) rs1940807179
NM_000020.3(ACVRL1):c.916_917insTCA (p.Ala306delinsValThr) rs1940807412
NM_000020.3(ACVRL1):c.931G>C (p.Ala311Pro) rs565262730
NM_000020.3(ACVRL1):c.935A>C (p.His312Pro)
NM_000020.3(ACVRL1):c.940C>A (p.His314Asn) rs1565594311
NM_000020.3(ACVRL1):c.982C>T (p.His328Tyr) rs1592224291
NM_000020.3(ACVRL1):c.983A>G (p.His328Arg)
NM_000020.3(ACVRL1):c.994A>G (p.Lys332Glu) rs2139073925
NM_000020.3(ACVRL1):c.995A>G (p.Lys332Arg) rs2139073933
NM_000020.3(ACVRL1):c.997A>T (p.Ser333Cys) rs2139073944
NM_000020.3(ACVRL1):c.999C>G (p.Ser333Arg) rs1453780248

The information on this website is not intended for direct diagnostic use or medical decision-making without review by a genetics professional. Individuals should not change their health behavior solely on the basis of information contained on this website. Neither the University of Utah nor the National Institutes of Health independently verfies the submitted information. If you have questions about the information contained on this website, please see a health care professional.