ClinVar Miner

List of variants studied for capillary malformation by ARUP Laboratories, Molecular Genetics and Genomics,ARUP Laboratories

Included ClinVar conditions (13):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 139
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HGVS dbSNP
NC_000012.12:g.51907469G>C rs1002184603
NM_000020.2(ACVRL1):c.*45del rs761647766
NM_000020.2(ACVRL1):c.*58G>A rs182368657
NM_000020.2(ACVRL1):c.-46C>G rs190953189
NM_000020.2(ACVRL1):c.-5-33C>T rs2277382
NM_000020.2(ACVRL1):c.-52G>A rs573048639
NM_000020.2(ACVRL1):c.1121G>A (p.Arg374Gln) rs1060503248
NM_000020.2(ACVRL1):c.1231C>T (p.Arg411Trp) rs121909287
NM_000020.2(ACVRL1):c.1313T>C (p.Met438Thr) rs1555153828
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 rs2656315
NM_000020.2(ACVRL1):c.1378-30T>C rs142910573
NM_000020.2(ACVRL1):c.1435C>T (p.Arg479Ter) rs1057517944
NM_000020.2(ACVRL1):c.1436G>A (p.Arg479Gln) rs1085307426
NM_000020.2(ACVRL1):c.314-35A>G rs2071219
NM_000020.2(ACVRL1):c.330G>A (p.Ser110=) rs77341011
NM_000020.2(ACVRL1):c.406_409del (p.Gly136fs) rs863223416
NM_000020.2(ACVRL1):c.601C>T (p.Gln201Ter) rs1318446539
NM_000020.2(ACVRL1):c.625+164T>C rs77709482
NM_000020.2(ACVRL1):c.626-53C>T rs111245531
NM_000020.2(ACVRL1):c.632G>A (p.Gly211Asp) rs28936687
NM_000020.2(ACVRL1):c.642C>T (p.Gly214=) rs139008591
NM_000020.2(ACVRL1):c.706G>A (p.Glu236Lys) rs1592223490
NM_000020.2(ACVRL1):c.914C>T (p.Ser305Phe) rs1555153126
NM_000020.3(ACVRL1):c.-5-227C>G rs2277381
NM_000020.3(ACVRL1):c.-5-59C>T rs563686436
NM_000020.3(ACVRL1):c.1031G>A (p.Cys344Tyr) rs28936688
NM_000020.3(ACVRL1):c.1064A>C (p.His355Pro)
NM_000020.3(ACVRL1):c.1084C>T (p.Leu362=)
NM_000020.3(ACVRL1):c.1132C>T (p.Pro378Ser) rs959973779
NM_000020.3(ACVRL1):c.1246G>A (p.Gly416Ser) rs1592225112
NM_000020.3(ACVRL1):c.1377+247_1377+248insTCTG
NM_000020.3(ACVRL1):c.1377+249_1377+250insTGTGTG rs1592227186
NM_000020.3(ACVRL1):c.1377+326G>T rs11609817
NM_000020.3(ACVRL1):c.1377+4A>T
NM_000020.3(ACVRL1):c.1377+636C>T rs706817
NM_000020.3(ACVRL1):c.1378-115T>A rs568821415
NM_000020.3(ACVRL1):c.1378-155T>G rs2277383
NM_000020.3(ACVRL1):c.1378-216C>T rs111710113
NM_000020.3(ACVRL1):c.1378-217A>G rs772003
NM_000020.3(ACVRL1):c.1378-248del rs202089535
NM_000020.3(ACVRL1):c.1378-339T>G
NM_000020.3(ACVRL1):c.1378-405A>G rs813471
NM_000020.3(ACVRL1):c.1378-417C>T
NM_000020.3(ACVRL1):c.1378-490_1378-489insTGA
NM_000020.3(ACVRL1):c.1378-556C>T
NM_000020.3(ACVRL1):c.1378-615_1378-614insGTTGATGAGCTTCCTGGGATGA
NM_000020.3(ACVRL1):c.1378-699C>T
NM_000020.3(ACVRL1):c.1378-711C>T rs116778422
NM_000020.3(ACVRL1):c.1445C>T (p.Ala482Val) rs139142865
NM_000020.3(ACVRL1):c.295_298dup (p.Ser100fs)
NM_000020.3(ACVRL1):c.313+11C>T rs2071218
NM_000020.3(ACVRL1):c.314-49G>C
NM_000020.3(ACVRL1):c.314-65G>C rs113559681
NM_000020.3(ACVRL1):c.62-69G>T rs114852790
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.626-60_626-59delinsT
NM_000020.3(ACVRL1):c.673_674del (p.Ser225fs)
NM_000020.3(ACVRL1):c.687G>C (p.Lys229Asn)
NM_000020.3(ACVRL1):c.72_79del (p.Lys25fs) rs1592221459
NM_000020.3(ACVRL1):c.747G>A (p.Val249=) rs1058563
NM_000020.3(ACVRL1):c.773-3C>G rs1592223964
NM_000020.3(ACVRL1):c.917C>T (p.Ala306Val) rs150038846
NM_000020.3(ACVRL1):c.999C>G (p.Ser333Arg)
NM_000118.3(ENG):c.*10G>T rs1588572388
NM_000118.3(ENG):c.-98G>A rs923040659
NM_000118.3(ENG):c.-9G>A rs368423516
NM_000118.3(ENG):c.1134G>A (p.Ala378=) rs1329127701
NM_000118.3(ENG):c.1195_1196del (p.Arg399fs) rs1131691422
NM_000118.3(ENG):c.1195del (p.Arg399fs) rs1131691444
NM_000118.3(ENG):c.1243C>T (p.Gln415Ter) rs1343053876
NM_000118.3(ENG):c.1309C>T (p.Arg437Trp) rs1434169817
NM_000118.3(ENG):c.1319T>G (p.Val440Gly) rs1554809363
NM_000118.3(ENG):c.1374A>G (p.Pro458=) rs34828244
NM_000118.3(ENG):c.1419C>T (p.Ser473=) rs561818608
NM_000118.3(ENG):c.1428+127G>A rs761685402
NM_000118.3(ENG):c.1428+1G>A rs863223542
NM_000118.3(ENG):c.1452C>T (p.Ser484=) rs115450389
NM_000118.3(ENG):c.145G>T (p.Val49Phe) rs1252348200
NM_000118.3(ENG):c.1510G>A (p.Val504Met) rs116330805
NM_000118.3(ENG):c.1585C>T (p.Arg529Cys) rs745316066
NM_000118.3(ENG):c.1687-117G>A rs1330684
NM_000118.3(ENG):c.1689_1699del (p.Glu563Aspfs)
NM_000118.3(ENG):c.187G>T (p.Glu63Ter) rs1588596830
NM_000118.3(ENG):c.219+23G>A rs200726108
NM_000118.3(ENG):c.219+25G>T rs7847860
NM_000118.3(ENG):c.360+1G>A rs886039505
NM_000118.3(ENG):c.360+5G>A rs1060501417
NM_000118.3(ENG):c.360C>A (p.Tyr120Ter) rs121918402
NM_000118.3(ENG):c.392C>T (p.Pro131Leu) rs139398993
NM_000118.3(ENG):c.523G>T (p.Ala175Ser) rs1588583488
NM_000118.3(ENG):c.524-15C>T rs201463582
NM_000118.3(ENG):c.588G>A (p.Trp196Ter) rs1588582860
NM_000118.3(ENG):c.662T>C (p.Leu221Pro) rs1554810378
NM_000118.3(ENG):c.667del (p.Val223fs) rs1588582666
NM_000118.3(ENG):c.686C>A (p.Ala229Asp) rs971190119
NM_000118.3(ENG):c.690-59C>A rs369047677
NM_000118.3(ENG):c.694C>T (p.Arg232Trp) rs200372420
NM_000118.3(ENG):c.721_725del (p.Ser241fs) rs1064794219
NM_000118.3(ENG):c.771dup (p.Tyr258fs) rs1588581902
NM_000118.3(ENG):c.817-1G>C rs1564455715
NM_000118.3(ENG):c.838A>T (p.Lys280Ter) rs1588581497
NM_000118.3(ENG):c.991+26_991+27insCCCCTC rs1554810143
NM_000118.3(ENG):c.991G>A (p.Gly331Ser) rs1060501410
NM_001077401.2(ACVRL1):c.1232G>A (p.Arg411Gln) rs121909284
NM_001114753.3(ENG):c.1029C>T (p.Thr343=) rs3739817
NM_001114753.3(ENG):c.1060C>T (p.Leu354=) rs36092484
NM_001114753.3(ENG):c.1096G>C (p.Asp366His) rs1800956
NM_001114753.3(ENG):c.120C>T (p.Gly40=) rs41522944
NM_001114753.3(ENG):c.1216C>G (p.Arg406Gly)
NM_001114753.3(ENG):c.1272+2T>C
NM_001114753.3(ENG):c.1290G>T (p.Leu430=)
NM_001114753.3(ENG):c.1311G>A (p.Arg437=)
NM_001114753.3(ENG):c.1429-8C>G
NM_001114753.3(ENG):c.142C>T (p.Gln48Ter)
NM_001114753.3(ENG):c.14C>T (p.Thr5Met) rs35400405
NM_001114753.3(ENG):c.159C>A (p.Cys53Ter)
NM_001114753.3(ENG):c.1645T>G (p.Cys549Gly)
NM_001114753.3(ENG):c.1794T>C (p.Gly598=) rs41358947
NM_001114753.3(ENG):c.1807G>A (p.Gly603Arg)
NM_001114753.3(ENG):c.1932C>T (p.Ile644=) rs181330955
NM_001114753.3(ENG):c.1977G>A (p.Ter659=)
NM_001114753.3(ENG):c.207G>A (p.Leu69=) rs11545664
NM_001114753.3(ENG):c.219+22C>T rs370257876
NM_001114753.3(ENG):c.524-13C>T
NM_001114753.3(ENG):c.572G>A (p.Gly191Asp) rs41322046
NM_001114753.3(ENG):c.618C>A (p.Gly206=)
NM_001114753.3(ENG):c.620G>T (p.Cys207Phe)
NM_001114753.3(ENG):c.698CGGTGA[1] (p.233TV[1]) rs1588582060
NM_002890.3(RASA1):c.2925+1del
NM_002890.3(RASA1):c.934_938del (p.Glu312fs)
NM_016204.4(GDF2):c.346+10C>T rs117345807
NM_016204.4(GDF2):c.352A>T (p.Ile118Phe)
NM_016204.4(GDF2):c.69G>T (p.Lys23Asn)
NM_016204.4(GDF2):c.716C>T (p.Thr239Met) rs782560993
NM_016204.4(GDF2):c.776A>G (p.Asn259Ser) rs140271276
NM_016204.4(GDF2):c.917G>A (p.Gly306Asp)

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