ClinVar Miner

List of variants studied for peripheral vascular disease by ARUP Laboratories, Molecular Genetics and Genomics, ARUP Laboratories

Included ClinVar conditions (19):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 193
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HGVS dbSNP gnomAD frequency
NM_000020.3(ACVRL1):c.314-35A>G rs2071219 0.46706
NM_000020.3(ACVRL1):c.313+11C>T rs2071218 0.45979
NM_000020.3(ACVRL1):c.1378-248T>G rs2656315 0.32172
NM_000020.3(ACVRL1):c.1378-405A>G rs813471 0.31751
NM_000020.3(ACVRL1):c.1377+45T>C rs706815 0.31560
NM_000020.3(ACVRL1):c.1377+65A>G rs706816 0.31557
NM_001114753.3(ENG):c.1687-117G>A rs1330684 0.28944
NM_001114753.3(ENG):c.207G>A (p.Leu69=) rs11545664 0.14184
NM_000020.3(ACVRL1):c.1378-699C>T rs74094825 0.13248
NM_000020.3(ACVRL1):c.-5-227C>G rs2277381 0.08706
NM_000020.3(ACVRL1):c.1378-155T>G rs2277383 0.08548
NM_000020.3(ACVRL1):c.625+164T>C rs77709482 0.07925
NM_000020.3(ACVRL1):c.-5-33C>T rs2277382 0.07716
NM_001114753.3(ENG):c.1029C>T (p.Thr343=) rs3739817 0.06792
NM_001114753.3(ENG):c.219+25G>T rs7847860 0.06245
NM_000020.3(ACVRL1):c.1378-339T>G rs74094826 0.05144
NM_000020.3(ACVRL1):c.1377+326G>T rs11609817 0.04840
NM_000020.3(ACVRL1):c.1378-217A>G rs772003 0.04704
NM_001114753.3(ENG):c.14C>T (p.Thr5Met) rs35400405 0.04608
NM_000020.3(ACVRL1):c.747G>A (p.Val249=) rs1058563 0.04166
NM_001114753.3(ENG):c.1060C>T (p.Leu354=) rs36092484 0.03618
NM_000020.3(ACVRL1):c.626-53C>T rs111245531 0.02158
NM_000020.3(ACVRL1):c.1378-30T>C rs142910573 0.02009
NM_000020.3(ACVRL1):c.*58G>A rs182368657 0.01817
NM_000020.3(ACVRL1):c.314-65G>C rs113559681 0.01773
NM_000020.3(ACVRL1):c.1377+636C>T rs706817 0.01525
NM_000020.3(ACVRL1):c.330G>A (p.Ser110=) rs77341011 0.01461
NM_001114753.3(ENG):c.1794T>C (p.Gly598=) rs41358947 0.01435
NM_000020.3(ACVRL1):c.-46C>G rs190953189 0.01297
NM_000020.3(ACVRL1):c.1378-216C>T rs111710113 0.01212
NM_001114753.3(ENG):c.572G>A (p.Gly191Asp) rs41322046 0.01000
NM_000020.3(ACVRL1):c.1378-556C>T rs78740726 0.00969
NM_001114753.3(ENG):c.1374A>G (p.Pro458=) rs34828244 0.00879
NM_000020.3(ACVRL1):c.62-69G>T rs114852790 0.00802
NM_001114753.3(ENG):c.1932C>T (p.Ile644=) rs181330955 0.00609
NM_016204.4(GDF2):c.911C>T (p.Thr304Met) rs75024165 0.00530
NM_000020.3(ACVRL1):c.1378-711C>T rs116778422 0.00492
NM_000020.3(ACVRL1):c.-52G>A rs573048639 0.00390
NM_001114753.3(ENG):c.120C>T (p.Gly40=) rs41522944 0.00355
NM_001114753.3(ENG):c.1096G>C (p.Asp366His) rs1800956 0.00353
NM_001114753.3(ENG):c.1452C>T (p.Ser484=) rs115450389 0.00311
NM_001114753.3(ENG):c.1510G>A (p.Val504Met) rs116330805 0.00311
NM_000020.3(ACVRL1):c.1445C>T (p.Ala482Val) rs139142865 0.00203
NM_001114753.3(ENG):c.1844C>T (p.Ser615Leu) rs148002300 0.00134
NM_001114753.3(ENG):c.524-15C>T rs201463582 0.00114
NM_016204.4(GDF2):c.352A>T (p.Ile118Phe) rs144456901 0.00113
NM_000020.3(ACVRL1):c.1378-115T>A rs568821415 0.00091
NM_001114753.3(ENG):c.1419C>T (p.Ser473=) rs561818608 0.00087
NM_016204.4(GDF2):c.346+10C>T rs117345807 0.00081
NM_001114753.3(ENG):c.392C>T (p.Pro131Leu) rs139398993 0.00077
NM_001114753.3(ENG):c.219+22C>T rs370257876 0.00073
NM_000020.3(ACVRL1):c.642C>T (p.Gly214=) rs139008591 0.00045
NM_001114753.3(ENG):c.687C>T (p.Ala229=) rs376919650 0.00042
NM_001114753.3(ENG):c.-9G>A rs368423516 0.00040
NM_016204.4(GDF2):c.917G>A (p.Gly306Asp) rs145635235 0.00038
NM_001114753.3(ENG):c.219+23G>A rs200726108 0.00037
NM_001114753.3(ENG):c.1447G>A (p.Val483Ile) rs141330288 0.00034
NM_016204.4(GDF2):c.776A>G (p.Asn259Ser) rs140271276 0.00031
NM_001114753.3(ENG):c.1533G>A (p.Ala511=) rs140760635 0.00027
NM_016204.4(GDF2):c.221G>A (p.Gly74Glu) rs151296940 0.00024
NM_000020.3(ACVRL1):c.1084C>T (p.Leu362=) rs375679140 0.00021
NM_016204.4(GDF2):c.1290G>A (p.Ter430=) rs139568056 0.00021
NM_001114753.3(ENG):c.1134+9A>T rs200780733 0.00018
NM_001114753.3(ENG):c.694C>T (p.Arg232Trp) rs200372420 0.00014
NM_000020.3(ACVRL1):c.917C>T (p.Ala306Val) rs150038846 0.00009
NM_001114753.3(ENG):c.690-59C>A rs369047677 0.00008
NM_001114753.3(ENG):c.1852+42C>T rs779974705 0.00006
NM_001114753.3(ENG):c.689+17G>A rs773103359 0.00005
NM_016204.4(GDF2):c.716C>T (p.Thr239Met) rs782560993 0.00004
NM_000020.3(ACVRL1):c.1377+785G>A rs568206326 0.00003
NM_001114753.3(ENG):c.-98G>A rs923040659 0.00003
NM_001114753.3(ENG):c.1134G>A (p.Ala378=) rs1329127701 0.00003
NM_001114753.3(ENG):c.1428+127G>A rs761685402 0.00003
NM_001114753.3(ENG):c.524-13C>T rs756926952 0.00003
NM_000020.3(ACVRL1):c.1378-417C>T rs1038380207 0.00002
NM_001114753.3(ENG):c.686C>A (p.Ala229Asp) rs971190119 0.00002
NM_000020.3(ACVRL1):c.-5-59C>T rs563686436 0.00001
NM_000020.3(ACVRL1):c.1064A>C (p.His355Pro) rs371005117 0.00001
NM_000020.3(ACVRL1):c.1121G>A (p.Arg374Gln) rs1060503248 0.00001
NM_000020.3(ACVRL1):c.1135G>A (p.Glu379Lys) rs1131691686 0.00001
NM_000020.3(ACVRL1):c.1232G>A (p.Arg411Gln) rs121909284 0.00001
NM_000020.3(ACVRL1):c.1378-368T>C rs1940945149 0.00001
NM_000020.3(ACVRL1):c.139C>T (p.Arg47Trp) rs768072967 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_001114753.3(ENG):c.1309C>T (p.Arg437Trp) rs1434169817 0.00001
NM_001114753.3(ENG):c.1585C>T (p.Arg529Cys) rs745316066 0.00001
NM_001114753.3(ENG):c.1742-28C>T rs752832223 0.00001
NM_001114753.3(ENG):c.1970T>C (p.Met657Thr) rs768873662 0.00001
NM_001114753.3(ENG):c.524-2A>G rs1060501414 0.00001
NM_001114753.3(ENG):c.633C>T (p.Gly211=) rs928192105 0.00001
NM_001114753.3(ENG):c.943G>A (p.Val315Met) rs763508329 0.00001
NM_016204.4(GDF2):c.714C>T (p.Asp238=) rs782288867 0.00001
NC_000012.12:g.51907469G>C rs1002184603
NM_000020.3(ACVRL1):c.*45del rs761647766
NM_000020.3(ACVRL1):c.1031G>A (p.Cys344Tyr) rs28936688
NM_000020.3(ACVRL1):c.1111G>T (p.Gly371Cys) rs2139076199
NM_000020.3(ACVRL1):c.1120C>T (p.Arg374Trp) rs28936401
NM_000020.3(ACVRL1):c.1132C>T (p.Pro378Ser) rs959973779
NM_000020.3(ACVRL1):c.1211T>A (p.Val404Glu)
NM_000020.3(ACVRL1):c.1231C>T (p.Arg411Trp) rs121909287
NM_000020.3(ACVRL1):c.1246G>A (p.Gly416Ser) rs1592225112
NM_000020.3(ACVRL1):c.1313T>C (p.Met438Thr) rs1555153828
NM_000020.3(ACVRL1):c.1346C>T (p.Pro449Leu) rs2139084385
NM_000020.3(ACVRL1):c.1355C>T (p.Pro452Leu) rs1555153848
NM_000020.3(ACVRL1):c.1377+248_1377+251dup rs200979126
NM_000020.3(ACVRL1):c.1377+249TG[18] rs55945390
NM_000020.3(ACVRL1):c.1377+249TG[23] rs55945390
NM_000020.3(ACVRL1):c.1377+4A>T rs1940909579
NM_000020.3(ACVRL1):c.1377+55T>C
NM_000020.3(ACVRL1):c.1377+745G>A
NM_000020.3(ACVRL1):c.1378-248del rs202089535
NM_000020.3(ACVRL1):c.1378-297T>A
NM_000020.3(ACVRL1):c.1378-49C>T
NM_000020.3(ACVRL1):c.1378-595_1378-594insAGTTGATGAGCTTCCTGGGATG rs1344683257
NM_000020.3(ACVRL1):c.1415G>A (p.Trp472Ter) rs1555154144
NM_000020.3(ACVRL1):c.1432G>C (p.Ala478Pro) rs1295923763
NM_000020.3(ACVRL1):c.1435C>T (p.Arg479Ter) rs1057517944
NM_000020.3(ACVRL1):c.314-49G>C rs200624173
NM_000020.3(ACVRL1):c.406_409del (p.Gly136fs) rs863223416
NM_000020.3(ACVRL1):c.412_413del (p.Leu138fs) rs2139067412
NM_000020.3(ACVRL1):c.430C>T (p.Arg144Ter) rs758683062
NM_000020.3(ACVRL1):c.601C>T (p.Gln201Ter) rs1318446539
NM_000020.3(ACVRL1):c.615G>A (p.Val205=) rs1940766632
NM_000020.3(ACVRL1):c.625+110_625+121del rs1592223149
NM_000020.3(ACVRL1):c.625+110_625+130del rs67833112
NM_000020.3(ACVRL1):c.632G>A (p.Gly211Asp) rs28936687
NM_000020.3(ACVRL1):c.673_674del (p.Ser225fs) rs1940782251
NM_000020.3(ACVRL1):c.687G>C (p.Lys229Asn) rs1940782986
NM_000020.3(ACVRL1):c.706G>A (p.Glu236Lys) rs1592223490
NM_000020.3(ACVRL1):c.72_79del (p.Lys25fs) rs1592221459
NM_000020.3(ACVRL1):c.772+1G>C rs1940785759
NM_000020.3(ACVRL1):c.772+5G>A
NM_000020.3(ACVRL1):c.773-3C>G rs1592223964
NM_000020.3(ACVRL1):c.872_873del (p.Arg291fs) rs1592224087
NM_000020.3(ACVRL1):c.914C>T (p.Ser305Phe) rs1555153126
NM_000020.3(ACVRL1):c.961C>T (p.Gln321Ter) rs2139073732
NM_000020.3(ACVRL1):c.979G>C (p.Ala327Pro) rs1940810597
NM_000020.3(ACVRL1):c.999C>G (p.Ser333Arg) rs1453780248
NM_000118.3(ENG):c.1689_1699del (p.Glu563Aspfs) rs1830345043
NM_001114753.3(ENG):c.1080_1083del (p.Thr361fs) rs863223540
NM_001114753.3(ENG):c.1087T>C (p.Cys363Arg) rs2131885848
NM_001114753.3(ENG):c.1195_1196del (p.Arg399fs) rs1131691422
NM_001114753.3(ENG):c.1195del (p.Arg399fs) rs1131691444
NM_001114753.3(ENG):c.1216C>G (p.Arg406Gly) rs751787590
NM_001114753.3(ENG):c.1243C>T (p.Gln415Ter) rs1343053876
NM_001114753.3(ENG):c.1272+2T>C rs1830431391
NM_001114753.3(ENG):c.1290G>T (p.Leu430=) rs377321205
NM_001114753.3(ENG):c.1311G>A (p.Arg437=) rs1554809448
NM_001114753.3(ENG):c.1319T>G (p.Val440Gly) rs1554809363
NM_001114753.3(ENG):c.1411C>T (p.Gln471Ter) rs1830395639
NM_001114753.3(ENG):c.1428+1G>A rs863223542
NM_001114753.3(ENG):c.1429-13C>G
NM_001114753.3(ENG):c.1429-8C>G rs376169815
NM_001114753.3(ENG):c.142C>T (p.Gln48Ter) rs1831082433
NM_001114753.3(ENG):c.1434_1435del (p.Arg478fs) rs1564452747
NM_001114753.3(ENG):c.145G>T (p.Val49Phe) rs1252348200
NM_001114753.3(ENG):c.1470dup (p.Asp491fs) rs1830385077
NM_001114753.3(ENG):c.159C>A (p.Cys53Ter) rs148475405
NM_001114753.3(ENG):c.1643G>A (p.Ser548Asn)
NM_001114753.3(ENG):c.1645T>G (p.Cys549Gly) rs1830376644
NM_001114753.3(ENG):c.1686+1G>T rs1554809228
NM_001114753.3(ENG):c.1807G>A (p.Gly603Arg) rs1830302008
NM_001114753.3(ENG):c.1852+36G>T rs1588572388
NM_001114753.3(ENG):c.1853-14GCTCCC[3] rs373296026
NM_001114753.3(ENG):c.187G>T (p.Glu63Ter) rs1588596830
NM_001114753.3(ENG):c.1977G>A (p.Ter659=) rs1337723089
NM_001114753.3(ENG):c.219+2T>C rs2131918332
NM_001114753.3(ENG):c.221G>C (p.Gly74Ala)
NM_001114753.3(ENG):c.360+1G>A rs886039505
NM_001114753.3(ENG):c.360+5G>A rs1060501417
NM_001114753.3(ENG):c.360C>A (p.Tyr120Ter) rs121918402
NM_001114753.3(ENG):c.361-2A>T
NM_001114753.3(ENG):c.465dup (p.Ile156fs) rs2131890499
NM_001114753.3(ENG):c.501C>A (p.Ser167Arg) rs1830619812
NM_001114753.3(ENG):c.523G>T (p.Ala175Ser) rs1588583488
NM_001114753.3(ENG):c.558del (p.Ser187fs) rs2131889490
NM_001114753.3(ENG):c.579_580del (p.Leu194fs)
NM_001114753.3(ENG):c.588G>A (p.Trp196Ter) rs1588582860
NM_001114753.3(ENG):c.618C>A (p.Gly206=) rs1830599217
NM_001114753.3(ENG):c.620G>T (p.Cys207Phe) rs1830599119
NM_001114753.3(ENG):c.662T>C (p.Leu221Pro) rs1554810378
NM_001114753.3(ENG):c.667del (p.Val223fs) rs1588582666
NM_001114753.3(ENG):c.67+6_67+14del rs2131936455
NM_001114753.3(ENG):c.698CGGTGA[1] (p.233TV[1]) rs1588582060
NM_001114753.3(ENG):c.721_725del (p.Ser241fs) rs1064794219
NM_001114753.3(ENG):c.788T>G (p.Ile263Ser) rs1085307431
NM_001114753.3(ENG):c.817-1G>C rs1564455715
NM_001114753.3(ENG):c.838A>T (p.Lys280Ter) rs1588581497
NM_001114753.3(ENG):c.991G>A (p.Gly331Ser) rs1060501410
NM_016204.4(GDF2):c.455T>A (p.Leu152His) rs2061098935
NM_016204.4(GDF2):c.69G>T (p.Lys23Asn) rs549031631
NM_016204.4(GDF2):c.740G>C (p.Gly247Ala) rs369219783

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