ClinVar Miner

List of variants in gene ACVRL1 reported as likely benign for capillary malformation

Included ClinVar conditions (18):
Minimum submission review status: Collection method:
Minimum conflict level:
Gene type:
ClinVar version:
Total variants: 140
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HGVS dbSNP gnomAD frequency
NM_000020.3(ACVRL1):c.1131A>G (p.Ala377=) rs61734313 0.00959
NM_000020.3(ACVRL1):c.1445C>T (p.Ala482Val) rs139142865 0.00203
NM_000020.3(ACVRL1):c.*871C>T rs142552361 0.00167
NM_000020.3(ACVRL1):c.484C>T (p.Leu162Phe) rs76038779 0.00088
NM_000020.3(ACVRL1):c.207C>T (p.Cys69=) rs56080682 0.00063
NM_000020.3(ACVRL1):c.329C>T (p.Ser110Leu) rs143872998 0.00041
NM_000020.3(ACVRL1):c.681C>T (p.Ala227=) rs147005473 0.00040
NM_000020.3(ACVRL1):c.666C>T (p.His222=) rs377194545 0.00034
NM_000020.3(ACVRL1):c.1348A>G (p.Thr450Ala) rs146206499 0.00031
NM_000020.3(ACVRL1):c.88C>T (p.Pro30Ser) rs149664056 0.00031
NM_000020.3(ACVRL1):c.*1369C>T rs202206221 0.00022
NM_000020.3(ACVRL1):c.1084C>T (p.Leu362=) rs375679140 0.00021
NM_000020.3(ACVRL1):c.77C>T (p.Pro26Leu) rs199542304 0.00019
NM_000020.3(ACVRL1):c.*823C>T rs117777735 0.00016
NM_000020.3(ACVRL1):c.652C>T (p.Arg218Trp) rs199874575 0.00014
NM_000020.3(ACVRL1):c.465C>T (p.Ser155=) rs143735377 0.00013
NM_000020.3(ACVRL1):c.664C>T (p.His222Tyr) rs746715195 0.00010
NM_000020.3(ACVRL1):c.1134C>T (p.Pro378=) rs147021958 0.00009
NM_000020.3(ACVRL1):c.1249A>T (p.Ile417Phe) rs141653630 0.00009
NM_000020.3(ACVRL1):c.536A>C (p.Asp179Ala) rs753792569 0.00009
NM_000020.3(ACVRL1):c.9G>A (p.Leu3=) rs779236098 0.00009
NM_000020.3(ACVRL1):c.294C>T (p.Asn98=) rs141429164 0.00006
NM_000020.3(ACVRL1):c.759C>T (p.His253=) rs374020751 0.00006
NM_000020.3(ACVRL1):c.786A>G (p.Ser262=) rs200320649 0.00006
NM_000020.3(ACVRL1):c.1104G>A (p.Pro368=) rs147885255 0.00005
NM_000020.3(ACVRL1):c.111G>A (p.Glu37=) rs781586192 0.00005
NM_000020.3(ACVRL1):c.526-11C>T rs573934792 0.00004
NM_000020.3(ACVRL1):c.699G>A (p.Ser233=) rs149508813 0.00004
NM_000020.3(ACVRL1):c.840C>T (p.His280=) rs146188863 0.00004
NM_000020.3(ACVRL1):c.948G>C (p.Glu316Asp) rs145300204 0.00004
NM_000020.3(ACVRL1):c.1377+785G>A rs568206326 0.00003
NM_000020.3(ACVRL1):c.1406G>A (p.Arg469Gln) rs200459424 0.00003
NM_000020.3(ACVRL1):c.303G>C (p.Leu101=) rs376417482 0.00003
NM_000020.3(ACVRL1):c.858C>T (p.Tyr286=) rs542810348 0.00003
NM_000020.3(ACVRL1):c.1173G>A (p.Glu391=) rs750157791 0.00002
NM_000020.3(ACVRL1):c.1239C>T (p.Ile413=) rs755557465 0.00002
NM_000020.3(ACVRL1):c.1378-417C>T rs1038380207 0.00002
NM_000020.3(ACVRL1):c.270C>T (p.Cys90=) rs556168617 0.00002
NM_000020.3(ACVRL1):c.429C>T (p.Val143=) rs762047618 0.00002
NM_000020.3(ACVRL1):c.511G>A (p.Asp171Asn) rs369436815 0.00002
NM_000020.3(ACVRL1):c.813G>T (p.Thr271=) rs543884349 0.00002
NM_000020.3(ACVRL1):c.933G>A (p.Ala311=) rs779758131 0.00002
NM_000020.3(ACVRL1):c.1098C>T (p.Asn366=) rs779118678 0.00001
NM_000020.3(ACVRL1):c.120T>C (p.His40=) rs745507845 0.00001
NM_000020.3(ACVRL1):c.1378-368T>C rs1940945149 0.00001
NM_000020.3(ACVRL1):c.1443C>T (p.Thr481=) rs1219639551 0.00001
NM_000020.3(ACVRL1):c.18C>G (p.Pro6=) rs778246850 0.00001
NM_000020.3(ACVRL1):c.246C>T (p.Thr82=) rs754476526 0.00001
NM_000020.3(ACVRL1):c.24A>G (p.Lys8=) rs776283937 0.00001
NM_000020.3(ACVRL1):c.525+10T>C rs555706400 0.00001
NM_000020.3(ACVRL1):c.526-10G>A rs771469803 0.00001
NM_000020.3(ACVRL1):c.780C>T (p.Ile260=) rs911791104 0.00001
NM_000020.3(ACVRL1):c.807G>A (p.Ser269=) rs1332822854 0.00001
NM_000020.3(ACVRL1):c.846C>T (p.His282=) rs574165873 0.00001
NM_000020.3(ACVRL1):c.87C>T (p.Gly29=) rs139486404 0.00001
NM_000020.3(ACVRL1):c.90G>A (p.Pro30=) rs373401329 0.00001
NM_000020.3(ACVRL1):c.918G>C (p.Ala306=) rs1359095143 0.00001
NM_000020.2(ACVRL1):c.-202C>G rs573855752
NM_000020.3(ACVRL1):c.*45del rs761647766
NM_000020.3(ACVRL1):c.*46T>G rs763282018
NM_000020.3(ACVRL1):c.*856dup rs544534093
NM_000020.3(ACVRL1):c.1005T>C (p.Asn335=)
NM_000020.3(ACVRL1):c.1014C>T (p.Val338=) rs1565594472
NM_000020.3(ACVRL1):c.1032T>C (p.Cys344=) rs368437392
NM_000020.3(ACVRL1):c.1041C>G (p.Ala347=) rs750685021
NM_000020.3(ACVRL1):c.1041C>T (p.Ala347=) rs750685021
NM_000020.3(ACVRL1):c.1048+55_1048+58del rs575587274
NM_000020.3(ACVRL1):c.1048+7C>T
NM_000020.3(ACVRL1):c.1048+8G>A
NM_000020.3(ACVRL1):c.1049-16G>A
NM_000020.3(ACVRL1):c.1049-9C>T
NM_000020.3(ACVRL1):c.1056T>C (p.Ala352=) rs764080716
NM_000020.3(ACVRL1):c.1110G>A (p.Val370=)
NM_000020.3(ACVRL1):c.1146C>T (p.Asp382=)
NM_000020.3(ACVRL1):c.1153A>C (p.Ile385Leu) rs1205407812
NM_000020.3(ACVRL1):c.1161G>C (p.Thr387=)
NM_000020.3(ACVRL1):c.1188T>C (p.Thr396=)
NM_000020.3(ACVRL1):c.1191C>T (p.Asp397=)
NM_000020.3(ACVRL1):c.1246+11A>G
NM_000020.3(ACVRL1):c.1246+16A>C
NM_000020.3(ACVRL1):c.1247-13T>G
NM_000020.3(ACVRL1):c.1263T>C (p.Tyr421=)
NM_000020.3(ACVRL1):c.1275C>T (p.Phe425=) rs191763644
NM_000020.3(ACVRL1):c.1323G>A (p.Val441=) rs1592226875
NM_000020.3(ACVRL1):c.1359C>T (p.Asn453=)
NM_000020.3(ACVRL1):c.1377+20T>G
NM_000020.3(ACVRL1):c.1377+55T>C
NM_000020.3(ACVRL1):c.1378-11C>T
NM_000020.3(ACVRL1):c.1378-131C>T
NM_000020.3(ACVRL1):c.1378-4C>G
NM_000020.3(ACVRL1):c.1378-69C>T
NM_000020.3(ACVRL1):c.1405C>A (p.Arg469=) rs760773605
NM_000020.3(ACVRL1):c.1443C>G (p.Thr481=)
NM_000020.3(ACVRL1):c.1450C>A (p.Arg484=) rs121909288
NM_000020.3(ACVRL1):c.1464A>C (p.Thr488=)
NM_000020.3(ACVRL1):c.1464A>G (p.Thr488=) rs1286842082
NM_000020.3(ACVRL1):c.1467A>G (p.Leu489=)
NM_000020.3(ACVRL1):c.1509A>G (p.Gln503=) rs745390732
NM_000020.3(ACVRL1):c.180G>A (p.Gly60=)
NM_000020.3(ACVRL1):c.306G>T (p.Val102=)
NM_000020.3(ACVRL1):c.313+7C>G rs374171506
NM_000020.3(ACVRL1):c.314-12C>A rs1226569087
NM_000020.3(ACVRL1):c.314-16T>C
NM_000020.3(ACVRL1):c.314-19C>T
NM_000020.3(ACVRL1):c.314-9C>T
NM_000020.3(ACVRL1):c.339G>A (p.Pro113=)
NM_000020.3(ACVRL1):c.372C>T (p.Gly124=) rs55758365
NM_000020.3(ACVRL1):c.375C>T (p.Pro125=) rs148975811
NM_000020.3(ACVRL1):c.393C>T (p.Ala131=) rs2139067291
NM_000020.3(ACVRL1):c.417C>A (p.Gly139=) rs2139067433
NM_000020.3(ACVRL1):c.462C>T (p.His154=) rs1188042599
NM_000020.3(ACVRL1):c.469C>T (p.Leu157=)
NM_000020.3(ACVRL1):c.495A>G (p.Lys165=)
NM_000020.3(ACVRL1):c.525+14_525+21del
NM_000020.3(ACVRL1):c.525+7G>A
NM_000020.3(ACVRL1):c.549C>A (p.Thr183=) rs2139068700
NM_000020.3(ACVRL1):c.573C>G (p.Pro191=) rs1404977364
NM_000020.3(ACVRL1):c.579G>T (p.Leu193=) rs201207660
NM_000020.3(ACVRL1):c.61+14G>A
NM_000020.3(ACVRL1):c.62-9G>A
NM_000020.3(ACVRL1):c.625+10G>A rs1592223042
NM_000020.3(ACVRL1):c.625+20G>A
NM_000020.3(ACVRL1):c.626-16C>T
NM_000020.3(ACVRL1):c.626-59del rs864622702
NM_000020.3(ACVRL1):c.633C>T (p.Gly211=)
NM_000020.3(ACVRL1):c.660G>C (p.Leu220Phe) rs142906906
NM_000020.3(ACVRL1):c.69T>C (p.Pro23=) rs762796409
NM_000020.3(ACVRL1):c.772+27G>A
NM_000020.3(ACVRL1):c.773-7C>T
NM_000020.3(ACVRL1):c.773-7_773-6delinsTC rs1555153071
NM_000020.3(ACVRL1):c.798C>A (p.Ser266=) rs2139072722
NM_000020.3(ACVRL1):c.843G>A (p.Glu281=)
NM_000020.3(ACVRL1):c.888C>G (p.Pro296=) rs776879586
NM_000020.3(ACVRL1):c.897T>C (p.Ala299=)
NM_000020.3(ACVRL1):c.909T>C (p.Ala303=)
NM_000020.3(ACVRL1):c.915C>T (p.Ser305=)
NM_000020.3(ACVRL1):c.921A>T (p.Ala307=)
NM_000020.3(ACVRL1):c.927_928delinsAT (p.Gly309_Leu310=) rs1592224196
NM_000020.3(ACVRL1):c.933G>C (p.Ala311=)
NM_000020.3(ACVRL1):c.990C>T (p.Asp330=) rs1463725277

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