ClinVar Miner

List of variants in gene ACVRL1 reported as uncertain significance for peripheral vascular disease

Included ClinVar conditions (20):
Minimum submission review status: Collection method:
Minimum conflict level:
Gene type:
ClinVar version:
Total variants: 226
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HGVS dbSNP gnomAD frequency
NM_000020.3(ACVRL1):c.-52G>A rs573048639 0.00390
NM_000020.3(ACVRL1):c.*242A>G rs147728309 0.00109
NM_000020.3(ACVRL1):c.*2277A>T rs529631289 0.00069
NM_000020.3(ACVRL1):c.*1493G>A rs565400159 0.00061
NM_000020.3(ACVRL1):c.*1689G>A rs139351455 0.00046
NM_000020.3(ACVRL1):c.*2347A>C rs573540605 0.00046
NM_000020.3(ACVRL1):c.*590G>T rs750985560 0.00046
NM_000020.3(ACVRL1):c.-129G>A rs886049607 0.00032
NM_000020.3(ACVRL1):c.*1662A>T rs886049618 0.00026
NM_000020.3(ACVRL1):c.-194A>C rs886049606 0.00016
NM_000020.3(ACVRL1):c.*120G>A rs539571133 0.00014
NM_000020.3(ACVRL1):c.*132G>A rs867355962 0.00012
NM_000020.3(ACVRL1):c.890A>G (p.His297Arg) rs139380315 0.00011
NM_000020.3(ACVRL1):c.*1676T>C rs747662494 0.00009
NM_000020.3(ACVRL1):c.*1777G>A rs546585572 0.00009
NM_000020.3(ACVRL1):c.*1839C>T rs755262319 0.00009
NM_000020.3(ACVRL1):c.1249A>T (p.Ile417Phe) rs141653630 0.00009
NM_000020.3(ACVRL1):c.917C>T (p.Ala306Val) rs150038846 0.00009
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.5C>T (p.Thr2Ile) rs373062714 0.00004
NM_000020.3(ACVRL1):c.948G>C (p.Glu316Asp) rs145300204 0.00004
NM_000020.3(ACVRL1):c.*1107G>T rs1459562251 0.00003
NM_000020.3(ACVRL1):c.*2113C>T rs777884246 0.00003
NM_000020.3(ACVRL1):c.*2268G>C rs929096514 0.00003
NM_000020.3(ACVRL1):c.*251A>G rs886049613 0.00003
NM_000020.3(ACVRL1):c.1258G>A (p.Asp420Asn) rs1231598304 0.00003
NM_000020.3(ACVRL1):c.1376C>T (p.Pro459Leu) rs767764795 0.00003
NM_000020.3(ACVRL1):c.1406G>A (p.Arg469Gln) rs200459424 0.00003
NM_000020.3(ACVRL1):c.1228C>T (p.Arg410Cys) rs781770577 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.431G>A (p.Arg144Gln) rs778058646 0.00002
NM_000020.3(ACVRL1):c.470T>C (p.Leu157Pro) rs1371249289 0.00002
NM_000020.3(ACVRL1):c.*1599A>G rs1438021354 0.00001
NM_000020.3(ACVRL1):c.*2098A>C rs886049619 0.00001
NM_000020.3(ACVRL1):c.*2252G>A rs1293668616 0.00001
NM_000020.3(ACVRL1):c.*2440G>T rs527990415 0.00001
NM_000020.3(ACVRL1):c.*814G>A rs1297798490 0.00001
NM_000020.3(ACVRL1):c.*879G>T rs886049615 0.00001
NM_000020.3(ACVRL1):c.*980C>T rs1376992134 0.00001
NM_000020.3(ACVRL1):c.-168G>C rs1465380790 0.00001
NM_000020.3(ACVRL1):c.-5-59C>T rs563686436 0.00001
NM_000020.3(ACVRL1):c.-58G>A rs886049608 0.00001
NM_000020.3(ACVRL1):c.1064A>C (p.His355Pro) rs371005117 0.00001
NM_000020.3(ACVRL1):c.1093G>A (p.Gly365Ser) rs749510030 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.139C>T (p.Arg47Trp) rs768072967 0.00001
NM_000020.3(ACVRL1):c.191A>C (p.Gln64Pro) rs943040923 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.338C>T (p.Pro113Leu) rs777206350 0.00001
NM_000020.3(ACVRL1):c.518T>C (p.Met173Thr) rs754813319 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.722G>A (p.Arg241Gln) rs202062929 0.00001
NC_000012.11:g.(?_52306259)_(52310037_?)dup
NM_000020.3(ACVRL1):c.*131C>T rs886049610
NM_000020.3(ACVRL1):c.*1351G>A rs886049616
NM_000020.3(ACVRL1):c.*1560A>G rs80260084
NM_000020.3(ACVRL1):c.*1630C>T rs886049617
NM_000020.3(ACVRL1):c.*200A>G rs886049611
NM_000020.3(ACVRL1):c.*2034G>T rs1941017240
NM_000020.3(ACVRL1):c.*205G>A rs886049612
NM_000020.3(ACVRL1):c.*478G>A rs1940976966
NM_000020.3(ACVRL1):c.*592G>A rs1940979955
NM_000020.3(ACVRL1):c.1010T>C (p.Leu337Pro) rs1592224349
NM_000020.3(ACVRL1):c.1013T>G (p.Val338Gly) rs1940812234
NM_000020.3(ACVRL1):c.1022A>G (p.Asn341Ser)
NM_000020.3(ACVRL1):c.1034G>A (p.Cys345Tyr) rs1592224431
NM_000020.3(ACVRL1):c.1036A>T (p.Ile346Phe)
NM_000020.3(ACVRL1):c.1036_1048+7dup
NM_000020.3(ACVRL1):c.1037T>G (p.Ile346Ser)
NM_000020.3(ACVRL1):c.1038C>G (p.Ile346Met)
NM_000020.3(ACVRL1):c.1040_1042dup (p.Ala347_Asp348insAla)
NM_000020.3(ACVRL1):c.1041C>A (p.Ala347=)
NM_000020.3(ACVRL1):c.1044_1048+4dup
NM_000020.3(ACVRL1):c.1048+3_1048+4delinsTT rs1940814416
NM_000020.3(ACVRL1):c.104C>T (p.Thr35Met)
NM_000020.3(ACVRL1):c.105G>A (p.Thr35=)
NM_000020.3(ACVRL1):c.1111G>T (p.Gly371Cys) rs2139076199
NM_000020.3(ACVRL1):c.1112G>C (p.Gly371Ala) rs1940832594
NM_000020.3(ACVRL1):c.1124A>G (p.Tyr375Cys) rs1085307416
NM_000020.3(ACVRL1):c.1135G>C (p.Glu379Gln)
NM_000020.3(ACVRL1):c.113G>A (p.Ser38Asn)
NM_000020.3(ACVRL1):c.1146C>A (p.Asp382Glu)
NM_000020.3(ACVRL1):c.1147G>A (p.Glu383Lys)
NM_000020.3(ACVRL1):c.1163A>G (p.Asp388Gly) rs1940835356
NM_000020.3(ACVRL1):c.1165T>C (p.Cys389Arg)
NM_000020.3(ACVRL1):c.1165_1179del (p.Cys389_Tyr393del) rs1940835452
NM_000020.3(ACVRL1):c.1169T>C (p.Phe390Ser)
NM_000020.3(ACVRL1):c.1177_1179delinsCAA (p.Tyr393Gln) rs1565595070
NM_000020.3(ACVRL1):c.1181A>G (p.Lys394Arg)
NM_000020.3(ACVRL1):c.1187C>A (p.Thr396Asn)
NM_000020.3(ACVRL1):c.1187C>T (p.Thr396Ile)
NM_000020.3(ACVRL1):c.1192A>G (p.Ile398Val)
NM_000020.3(ACVRL1):c.1211T>A (p.Val404Glu)
NM_000020.3(ACVRL1):c.1214T>A (p.Leu405Gln)
NM_000020.3(ACVRL1):c.1222A>T (p.Ile408Phe)
NM_000020.3(ACVRL1):c.1229G>A (p.Arg410His)
NM_000020.3(ACVRL1):c.1240G>A (p.Val414Met)
NM_000020.3(ACVRL1):c.1246+5G>A rs1940838881
NM_000020.3(ACVRL1):c.1246+5G>C
NM_000020.3(ACVRL1):c.1247-7T>G
NM_000020.3(ACVRL1):c.1247G>C (p.Gly416Ala) rs1940905575
NM_000020.3(ACVRL1):c.124_138del (p.Lys42_Cys46del) rs2139064546
NM_000020.3(ACVRL1):c.1252G>A (p.Val418Met) rs753480401
NM_000020.3(ACVRL1):c.1254_1304dup (p.Ser434_Phe435insLeuGluAspTyrArgProProPheTyrAspValValProAsnAspProSer)
NM_000020.3(ACVRL1):c.127G>A (p.Gly43Arg)
NM_000020.3(ACVRL1):c.1286T>A (p.Val429Glu)
NM_000020.3(ACVRL1):c.1306G>A (p.Glu436Lys)
NM_000020.3(ACVRL1):c.1315AAG[1] (p.Lys440del) rs1940907616
NM_000020.3(ACVRL1):c.1319A>G (p.Lys440Arg)
NM_000020.3(ACVRL1):c.1326G>A (p.Val442=)
NM_000020.3(ACVRL1):c.1327T>G (p.Cys443Gly)
NM_000020.3(ACVRL1):c.1334A>G (p.Asp445Gly)
NM_000020.3(ACVRL1):c.1361G>A (p.Arg454Gln)
NM_000020.3(ACVRL1):c.1377+4A>T rs1940909579
NM_000020.3(ACVRL1):c.1377G>A (p.Pro459=) rs61734312
NM_000020.3(ACVRL1):c.1378-297T>A
NM_000020.3(ACVRL1):c.137G>C (p.Cys46Ser) rs1555152454
NM_000020.3(ACVRL1):c.1393G>T (p.Ala465Ser)
NM_000020.3(ACVRL1):c.1403T>G (p.Met468Arg)
NM_000020.3(ACVRL1):c.1405C>T (p.Arg469Trp) rs760773605
NM_000020.3(ACVRL1):c.1412G>A (p.Cys471Tyr) rs1555154137
NM_000020.3(ACVRL1):c.1432G>C (p.Ala478Pro) rs1295923763
NM_000020.3(ACVRL1):c.1444G>A (p.Ala482Thr)
NM_000020.3(ACVRL1):c.1444G>C (p.Ala482Pro)
NM_000020.3(ACVRL1):c.1448T>G (p.Leu483Arg) rs1565597471
NM_000020.3(ACVRL1):c.1459A>G (p.Lys487Glu) rs1940959530
NM_000020.3(ACVRL1):c.1465C>A (p.Leu489Ile) rs1940959903
NM_000020.3(ACVRL1):c.1477A>G (p.Ser493Gly)
NM_000020.3(ACVRL1):c.1483A>G (p.Ser495Gly)
NM_000020.3(ACVRL1):c.158T>C (p.Val53Ala)
NM_000020.3(ACVRL1):c.170G>A (p.Arg57Gln)
NM_000020.3(ACVRL1):c.182G>A (p.Arg61Lys)
NM_000020.3(ACVRL1):c.183G>C (p.Arg61Ser)
NM_000020.3(ACVRL1):c.212A>G (p.Asn71Ser)
NM_000020.3(ACVRL1):c.235G>A (p.Gly79Arg)
NM_000020.3(ACVRL1):c.239G>A (p.Arg80His)
NM_000020.3(ACVRL1):c.247G>A (p.Glu83Lys)
NM_000020.3(ACVRL1):c.251T>G (p.Phe84Cys) rs1940738967
NM_000020.3(ACVRL1):c.258C>G (p.Asn86Lys)
NM_000020.3(ACVRL1):c.259C>G (p.His87Asp) rs1430932447
NM_000020.3(ACVRL1):c.262T>G (p.Tyr88Asp) rs1555152518
NM_000020.3(ACVRL1):c.263A>G (p.Tyr88Cys) rs1940739692
NM_000020.3(ACVRL1):c.271G>A (p.Asp91Asn)
NM_000020.3(ACVRL1):c.281T>C (p.Leu94Pro)
NM_000020.3(ACVRL1):c.313+7C>T rs374171506
NM_000020.3(ACVRL1):c.314-15del
NM_000020.3(ACVRL1):c.353A>G (p.Gln118Arg)
NM_000020.3(ACVRL1):c.365T>C (p.Ile122Thr)
NM_000020.3(ACVRL1):c.368T>A (p.Leu123Gln)
NM_000020.3(ACVRL1):c.368T>C (p.Leu123Pro) rs762756031
NM_000020.3(ACVRL1):c.369G>A (p.Leu123=) rs56301903
NM_000020.3(ACVRL1):c.376G>C (p.Val126Leu)
NM_000020.3(ACVRL1):c.379C>G (p.Leu127Val)
NM_000020.3(ACVRL1):c.434G>C (p.Arg145Pro)
NM_000020.3(ACVRL1):c.442_444del (p.Glu148del)
NM_000020.3(ACVRL1):c.451C>T (p.Arg151Cys)
NM_000020.3(ACVRL1):c.452G>A (p.Arg151His)
NM_000020.3(ACVRL1):c.466G>A (p.Glu156Lys)
NM_000020.3(ACVRL1):c.476A>G (p.Glu159Gly)
NM_000020.3(ACVRL1):c.495A>G (p.Lys165=)
NM_000020.3(ACVRL1):c.499T>C (p.Ser167Pro)
NM_000020.3(ACVRL1):c.500C>G (p.Ser167Cys)
NM_000020.3(ACVRL1):c.509G>A (p.Gly170Asp)
NM_000020.3(ACVRL1):c.526-13T>A
NM_000020.3(ACVRL1):c.526-3C>A
NM_000020.3(ACVRL1):c.526-7C>A rs772776468
NM_000020.3(ACVRL1):c.526-7C>G
NM_000020.3(ACVRL1):c.541G>A (p.Asp181Asn)
NM_000020.3(ACVRL1):c.576C>G (p.Phe192Leu)
NM_000020.3(ACVRL1):c.587G>A (p.Arg196Lys)
NM_000020.3(ACVRL1):c.589A>G (p.Thr197Ala)
NM_000020.3(ACVRL1):c.593T>C (p.Val198Ala) rs886043123
NM_000020.3(ACVRL1):c.611TGG[1] (p.Val205del) rs1060503250
NM_000020.3(ACVRL1):c.615G>A (p.Val205=) rs1940766632
NM_000020.3(ACVRL1):c.625+3G>C
NM_000020.3(ACVRL1):c.625+4del
NM_000020.3(ACVRL1):c.625+5G>T rs2139069022
NM_000020.3(ACVRL1):c.625G>A (p.Gly209Arg) rs1940766958
NM_000020.3(ACVRL1):c.626-9G>A rs1940780208
NM_000020.3(ACVRL1):c.643G>A (p.Glu215Lys) rs754283265
NM_000020.3(ACVRL1):c.646_657dup (p.Val216_Gly219dup) rs2139070394
NM_000020.3(ACVRL1):c.653G>A (p.Arg218Gln) rs779287554
NM_000020.3(ACVRL1):c.653G>C (p.Arg218Pro) rs779287554
NM_000020.3(ACVRL1):c.667G>A (p.Gly223Ser) rs1940782114
NM_000020.3(ACVRL1):c.667G>C (p.Gly223Arg)
NM_000020.3(ACVRL1):c.704A>G (p.Asp235Gly)
NM_000020.3(ACVRL1):c.706G>A (p.Glu236Lys) rs1592223490
NM_000020.3(ACVRL1):c.713C>T (p.Ser238Phe) rs761033311
NM_000020.3(ACVRL1):c.721C>T (p.Arg241Trp)
NM_000020.3(ACVRL1):c.737A>G (p.Tyr246Cys) rs755026232
NM_000020.3(ACVRL1):c.746T>C (p.Val249Ala)
NM_000020.3(ACVRL1):c.748T>G (p.Leu250Val)
NM_000020.3(ACVRL1):c.758A>G (p.His253Arg) rs2139070976
NM_000020.3(ACVRL1):c.761ACA[1] (p.Asn255del)
NM_000020.3(ACVRL1):c.763A>G (p.Asn255Asp)
NM_000020.3(ACVRL1):c.770T>C (p.Leu257Pro) rs2139071033
NM_000020.3(ACVRL1):c.772+14_772+16delinsTAG
NM_000020.3(ACVRL1):c.774C>T (p.Gly258=)
NM_000020.3(ACVRL1):c.779T>C (p.Ile260Thr)
NM_000020.3(ACVRL1):c.781G>C (p.Ala261Pro)
NM_000020.3(ACVRL1):c.812C>G (p.Thr271Arg)
NM_000020.3(ACVRL1):c.815A>G (p.Gln272Arg)
NM_000020.3(ACVRL1):c.822G>C (p.Trp274Cys)
NM_000020.3(ACVRL1):c.822G>T (p.Trp274Cys) rs757645341
NM_000020.3(ACVRL1):c.824T>C (p.Leu275Pro)
NM_000020.3(ACVRL1):c.835_837dup (p.Tyr279_His280insTyr)
NM_000020.3(ACVRL1):c.847G>A (p.Gly283Ser)
NM_000020.3(ACVRL1):c.848G>T (p.Gly283Val) rs1940804461
NM_000020.3(ACVRL1):c.850T>G (p.Ser284Ala)
NM_000020.3(ACVRL1):c.905T>C (p.Leu302Pro) rs1565594217
NM_000020.3(ACVRL1):c.907G>C (p.Ala303Pro) rs1565594220
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.920C>T (p.Ala307Val)
NM_000020.3(ACVRL1):c.943G>A (p.Val315Met)
NM_000020.3(ACVRL1):c.969A>C (p.Lys323Asn) rs771877309
NM_000020.3(ACVRL1):c.974C>G (p.Ala325Gly)
NM_000020.3(ACVRL1):c.979G>C (p.Ala327Pro) rs1940810597
NM_000020.3(ACVRL1):c.984C>A (p.His328Gln) rs1565594410

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