ClinVar Miner

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

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Gene type:
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Total variants: 70
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HGVS dbSNP gnomAD frequency
NM_000020.3(ACVRL1):c.1157G>A (p.Arg386His) rs141764916 0.00016
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.1030_1048+18del rs1940812948
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.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.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.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.1231_1246+4dup rs1940838178
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.1313T>C (p.Met438Thr) rs1555153828
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.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.205T>G (p.Cys69Gly)
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>T (p.Cys90Phe) rs863223410
NM_000020.3(ACVRL1):c.270C>G (p.Cys90Trp)
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.61+1G>A
NM_000020.3(ACVRL1):c.61+1G>T
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.688A>T (p.Ile230Phe)
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>T (p.Thr277Met)
NM_000020.3(ACVRL1):c.851C>T (p.Ser284Phe) rs768643771
NM_000020.3(ACVRL1):c.863T>C (p.Phe288Ser) rs1940804969
NM_000020.3(ACVRL1):c.916G>C (p.Ala306Pro) rs1940807179
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.983A>G (p.His328Arg)
NM_000020.3(ACVRL1):c.997A>T (p.Ser333Cys) rs2139073944

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