ClinVar Miner

List of variants in gene ACVRL1 reported by GeneDx

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Gene type:
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Total variants: 56
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HGVS dbSNP
NM_000020.2(ACVRL1):c.-46C>G rs190953189
NM_000020.2(ACVRL1):c.-5-33C>T rs2277382
NM_000020.2(ACVRL1):c.1027C>T (p.Gln343Ter) rs1064796530
NM_000020.2(ACVRL1):c.1029_1030GT[3] (p.Cys345fs) rs863223417
NM_000020.2(ACVRL1):c.1048+2T>G rs1555153172
NM_000020.2(ACVRL1):c.1120C>T (p.Arg374Trp) rs28936401
NM_000020.2(ACVRL1):c.1122del (p.Tyr375fs) rs863223418
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.1219G>A (p.Glu407Lys) rs1057521203
NM_000020.2(ACVRL1):c.1231C>T (p.Arg411Trp) rs121909287
NM_000020.2(ACVRL1):c.1246+19C>T rs185343653
NM_000020.2(ACVRL1):c.1246+9C>T rs115378744
NM_000020.2(ACVRL1):c.1247-15A>G rs186868158
NM_000020.2(ACVRL1):c.1285G>T (p.Val429Leu) rs1131691286
NM_000020.2(ACVRL1):c.1336C>T (p.Gln446Ter) rs1064794217
NM_000020.2(ACVRL1):c.1348A>G (p.Thr450Ala) rs146206499
NM_000020.2(ACVRL1):c.1377+1G>A rs863223406
NM_000020.2(ACVRL1):c.1377+45T>C rs706815
NM_000020.2(ACVRL1):c.1377+65A>G rs706816
NM_000020.2(ACVRL1):c.1378-248T>G
NM_000020.2(ACVRL1):c.139_140insCG (p.Arg47fs) rs1555152455
NM_000020.2(ACVRL1):c.140G>C (p.Arg47Pro) rs774389618
NM_000020.2(ACVRL1):c.1435C>T (p.Arg479Ter) rs1057517944
NM_000020.2(ACVRL1):c.1445C>T (p.Ala482Val) rs139142865
NM_000020.2(ACVRL1):c.145dup (p.Ala49fs) rs863223415
NM_000020.2(ACVRL1):c.1466T>C (p.Leu489Pro) rs1057523573
NM_000020.2(ACVRL1):c.152G>A (p.Cys51Tyr) rs863223409
NM_000020.2(ACVRL1):c.154A>G (p.Thr52Ala) rs1131691346
NM_000020.2(ACVRL1):c.200G>A (p.Arg67Gln) rs863223414
NM_000020.2(ACVRL1):c.269G>A (p.Cys90Tyr) rs863223410
NM_000020.2(ACVRL1):c.295_299del (p.Val99fs) rs1085307872
NM_000020.2(ACVRL1):c.302del (p.Leu101fs) rs1064794791
NM_000020.2(ACVRL1):c.313+11C>T rs2071218
NM_000020.2(ACVRL1):c.330G>A (p.Ser110=) rs77341011
NM_000020.2(ACVRL1):c.376G>A (p.Val126Met) rs369146413
NM_000020.2(ACVRL1):c.406_409del (p.Gly136fs) rs863223416
NM_000020.2(ACVRL1):c.439C>T (p.Gln147Ter) rs1555152650
NM_000020.2(ACVRL1):c.598C>T (p.Arg200Trp) rs999380946
NM_000020.2(ACVRL1):c.601C>T (p.Gln201Ter) rs1318446539
NM_000020.2(ACVRL1):c.626-59G>T
NM_000020.2(ACVRL1):c.639T>G (p.Tyr213Ter) rs962224649
NM_000020.2(ACVRL1):c.682G>A (p.Val228Ile) rs138048445
NM_000020.2(ACVRL1):c.747G>A (p.Val249=) rs1058563
NM_000020.2(ACVRL1):c.772+305T>A
NM_000020.2(ACVRL1):c.772+6G>A rs778170281
NM_000020.2(ACVRL1):c.841G>T (p.Glu281Ter) rs779485996
NM_000020.2(ACVRL1):c.916_917delinsAA (p.Ala306Lys) rs1060503244
NM_000020.2(ACVRL1):c.916del (p.Ala306fs) rs1064796070
NM_000020.2(ACVRL1):c.920C>A (p.Ala307Glu) rs863223411
NM_000020.2(ACVRL1):c.924C>A (p.Cys308Ter) rs1555153131
NM_000020.2(ACVRL1):c.986G>A (p.Arg329His) rs863223412
NM_000020.2(ACVRL1):c.993C>T (p.Phe331=) rs56379428
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

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