ClinVar Miner

List of variants reported as benign for capillary malformation

Included ClinVar conditions (18):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 237
Download table as spreadsheet
HGVS dbSNP gnomAD frequency
NM_000020.3(ACVRL1):c.*1246T>C rs706819 0.71921
NM_004444.5(EPHB4):c.1752A>G (p.Gly584=) rs314359 0.56302
NM_000020.3(ACVRL1):c.314-35A>G rs2071219 0.46706
NM_000020.3(ACVRL1):c.313+11C>T rs2071218 0.45979
NM_004444.5(EPHB4):c.1890C>T (p.Cys630=) rs2230585 0.32365
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_000020.3(ACVRL1):c.*560T>C rs706818 0.31441
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.*1926T>C rs2293094 0.13660
NM_000020.3(ACVRL1):c.1378-699C>T rs74094825 0.13248
NM_000020.3(ACVRL1):c.*869C>T rs113690319 0.12912
NM_000020.3(ACVRL1):c.*913C>T rs75074181 0.12876
NM_000020.3(ACVRL1):c.*2398G>A rs2293092 0.11085
NM_004444.5(EPHB4):c.1422+3A>G rs3857809 0.08906
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.*2380C>G rs2293093 0.08542
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.*1021T>C rs697631 0.05250
NM_000020.3(ACVRL1):c.*949C>T rs810052 0.05244
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_000020.3(ACVRL1):c.61+22A>G rs706812 0.03730
NM_002890.3(RASA1):c.1777-14T>A rs36000817 0.03681
NM_001114753.3(ENG):c.1060C>T (p.Leu354=) rs36092484 0.03618
NM_000020.3(ACVRL1):c.*2313G>A rs61914025 0.02816
NM_002890.3(RASA1):c.1777-16A>T rs75512926 0.02314
NM_000020.3(ACVRL1):c.626-53C>T rs111245531 0.02158
NM_000020.3(ACVRL1):c.*862G>A rs116256992 0.02136
NM_002890.3(RASA1):c.296C>T (p.Ala99Val) rs111840875 0.02050
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.*1560A>C rs80260084 0.01740
NM_000020.3(ACVRL1):c.*2422A>G rs706820 0.01556
NM_000020.3(ACVRL1):c.*1776C>T rs78150616 0.01548
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_000020.3(ACVRL1):c.*935G>C rs116740271 0.01206
NM_001114753.3(ENG):c.572G>A (p.Gly191Asp) rs41322046 0.01000
NM_002890.3(RASA1):c.1777-15_1777-14insA rs202147617 0.00998
NM_000020.3(ACVRL1):c.1378-556C>T rs78740726 0.00969
NM_000020.3(ACVRL1):c.1131A>G (p.Ala377=) rs61734313 0.00959
NM_000020.3(ACVRL1):c.1246+19C>T rs185343653 0.00959
NM_000020.3(ACVRL1):c.1246+9C>T rs115378744 0.00958
NM_000020.3(ACVRL1):c.*1041G>T rs199949661 0.00887
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_000020.3(ACVRL1):c.*423C>T rs114741844 0.00592
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.*499T>G rs572632343 0.00446
NM_000020.3(ACVRL1):c.772+24C>T rs151169686 0.00421
NM_000020.3(ACVRL1):c.*992A>G rs567585207 0.00409
NM_000020.3(ACVRL1):c.-52G>A rs573048639 0.00390
NM_000020.3(ACVRL1):c.*2281G>T rs114323941 0.00374
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_002890.3(RASA1):c.304G>T (p.Val102Leu) rs115606026 0.00315
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_002890.3(RASA1):c.209A>G (p.Glu70Gly) rs146525982 0.00278
NM_002890.3(RASA1):c.829-12T>A rs187379673 0.00276
NM_002890.3(RASA1):c.1102+10T>C rs150779406 0.00268
NM_002890.3(RASA1):c.2691-11C>T rs149730288 0.00264
NM_002890.3(RASA1):c.1371G>A (p.Lys457=) rs140707293 0.00208
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.732C>T (p.Pro244=) rs112262663 0.00124
NM_002890.3(RASA1):c.384C>T (p.Leu128=) rs34385096 0.00121
NM_001114753.3(ENG):c.179C>A (p.Ala60Asp) rs146100407 0.00117
NM_001114753.3(ENG):c.180C>A (p.Ala60=) rs146188464 0.00117
NM_001114753.3(ENG):c.524-12G>A rs142841129 0.00116
NM_001114753.3(ENG):c.524-15C>T rs201463582 0.00114
NM_016204.4(GDF2):c.352A>T (p.Ile118Phe) rs144456901 0.00113
NM_002890.3(RASA1):c.2528C>A (p.Thr843Asn) rs184201084 0.00096
NM_016204.4(GDF2):c.652G>A (p.Asp218Asn) rs142402214 0.00096
NM_000020.3(ACVRL1):c.1378-115T>A rs568821415 0.00091
NM_001114753.3(ENG):c.225G>A (p.Pro75=) rs116146060 0.00091
NM_000020.3(ACVRL1):c.543C>T (p.Asp181=) rs140970131 0.00090
NM_001114753.3(ENG):c.1419C>T (p.Ser473=) rs561818608 0.00087
NM_002890.3(RASA1):c.*164A>G rs112969290 0.00085
NM_016204.4(GDF2):c.346+10C>T rs117345807 0.00081
NM_001114753.3(ENG):c.-186G>A rs569618819 0.00080
NM_001114753.3(ENG):c.-54C>A rs2296702 0.00080
NM_001114753.3(ENG):c.617G>C (p.Gly206Ala) rs201393380 0.00080
NM_000020.3(ACVRL1):c.313+40G>C rs376033978 0.00078
NM_016204.4(GDF2):c.1017C>T (p.Ile339=) rs148730910 0.00078
NM_001114753.3(ENG):c.392C>T (p.Pro131Leu) rs139398993 0.00077
NM_001114753.3(ENG):c.234G>A (p.Leu78=) rs115675061 0.00076
NM_001114753.3(ENG):c.816+12G>A rs115316938 0.00076
NM_001114753.3(ENG):c.-158C>T rs41470844 0.00075
NM_001114753.3(ENG):c.219+22C>T rs370257876 0.00073
NM_002890.3(RASA1):c.162G>C (p.Glu54Asp) rs201502793 0.00073
NM_002890.3(RASA1):c.1394G>A (p.Arg465His) rs181630831 0.00071
NM_002890.3(RASA1):c.1103-17C>T rs200562377 0.00066
NM_000020.3(ACVRL1):c.207C>T (p.Cys69=) rs56080682 0.00063
NM_002890.3(RASA1):c.360C>A (p.Pro120=) rs137878395 0.00061
NM_000020.3(ACVRL1):c.1247-15A>G rs186868158 0.00056
NM_001114753.3(ENG):c.159C>T (p.Cys53=) rs148475405 0.00056
NM_001114753.3(ENG):c.1407G>A (p.Pro469=) rs41302657 0.00048
NM_002890.3(RASA1):c.*1001T>C rs536593719 0.00048
NM_001114753.3(ENG):c.1455G>A (p.Glu485=) rs150456852 0.00046
NM_000020.3(ACVRL1):c.642C>T (p.Gly214=) rs139008591 0.00045
NM_001114753.3(ENG):c.1233C>T (p.Ser411=) rs137870512 0.00043
NM_002890.3(RASA1):c.1583A>G (p.Tyr528Cys) rs145752649 0.00043
NM_001114753.3(ENG):c.687C>T (p.Ala229=) rs376919650 0.00042
NM_000020.3(ACVRL1):c.681C>T (p.Ala227=) rs147005473 0.00040
NM_016204.4(GDF2):c.34C>T (p.Leu12=) rs61758973 0.00040
NM_001114753.3(ENG):c.1633G>A (p.Gly545Ser) rs142896669 0.00037
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_016204.4(GDF2):c.776A>G (p.Asn259Ser) rs140271276 0.00031
NM_002890.3(RASA1):c.2286C>T (p.His762=) rs373059169 0.00030
NM_016204.4(GDF2):c.615G>A (p.Leu205=) rs141350776 0.00029
NM_001114753.3(ENG):c.-63C>T rs886063476 0.00028
NM_001114753.3(ENG):c.1533G>A (p.Ala511=) rs140760635 0.00027
NM_000020.3(ACVRL1):c.1122G>T (p.Arg374=) rs187902433 0.00024
NM_000020.3(ACVRL1):c.817C>T (p.Leu273=) rs55802125 0.00024
NM_001114753.3(ENG):c.1742-13C>T rs373611252 0.00021
NM_001114753.3(ENG):c.388C>T (p.Pro130Ser) rs199840979 0.00021
NM_001114753.3(ENG):c.595C>T (p.Arg199Cys) rs752195587 0.00016
NM_002890.3(RASA1):c.224G>C (p.Gly75Ala) rs200002693 0.00016
NM_001114753.3(ENG):c.322C>T (p.His108Tyr) rs756897517 0.00015
NM_000020.3(ACVRL1):c.652C>T (p.Arg218Trp) rs199874575 0.00014
NM_001114753.3(ENG):c.1637C>T (p.Thr546Ile) rs372453075 0.00013
NM_001114753.3(ENG):c.360+91C>T rs371908386 0.00012
NM_002890.3(RASA1):c.1332+8T>C rs376637789 0.00012
NM_000020.3(ACVRL1):c.993C>T (p.Phe331=) rs56379428 0.00011
NM_016204.4(GDF2):c.378C>A (p.Phe126Leu) rs180821007 0.00010
NM_001114753.3(ENG):c.1040A>G (p.Lys347Arg) rs150829904 0.00009
NM_002890.3(RASA1):c.1494G>A (p.Glu498=) rs200197533 0.00009
NM_000020.3(ACVRL1):c.78G>A (p.Pro26=) rs774167132 0.00008
NM_001114753.3(ENG):c.1135-7G>A rs201359896 0.00008
NM_001114753.3(ENG):c.634G>A (p.Val212Met) rs370652082 0.00008
NM_001114753.3(ENG):c.690-59C>A rs369047677 0.00008
NM_000020.3(ACVRL1):c.759C>T (p.His253=) rs374020751 0.00006
NM_001114753.3(ENG):c.1695T>C (p.His565=) rs750637713 0.00006
NM_002890.3(RASA1):c.1968A>T (p.Ile656=) rs370819852 0.00006
NM_001114753.3(ENG):c.1316A>C (p.Lys439Thr) rs368533266 0.00005
NM_001114753.3(ENG):c.689+17G>A rs773103359 0.00005
NM_002890.3(RASA1):c.2259C>T (p.Ala753=) rs552498036 0.00005
NM_000020.3(ACVRL1):c.526-11C>T rs573934792 0.00004
NM_001114753.3(ENG):c.112G>A (p.Glu38Lys) rs747481834 0.00004
NM_001114753.3(ENG):c.1686+19G>A rs201163068 0.00004
NM_001114753.3(ENG):c.1761C>T (p.Leu587=) rs546872552 0.00004
NM_001114753.3(ENG):c.727G>A (p.Ala243Thr) rs761827492 0.00004
NM_001114753.3(ENG):c.742G>A (p.Asp248Asn) rs775160533 0.00004
NM_016204.4(GDF2):c.73C>T (p.Leu25=) rs200760960 0.00004
NM_000020.3(ACVRL1):c.1161G>A (p.Thr387=) rs150140878 0.00003
NM_001114753.3(ENG):c.1093G>A (p.Asp365Asn) rs548690138 0.00003
NM_001114753.3(ENG):c.593C>T (p.Pro198Leu) rs777633247 0.00003
NM_001114753.3(ENG):c.627G>C (p.Leu209Phe) rs763087751 0.00003
NM_001114753.3(ENG):c.69T>C (p.Ser23=) rs202048202 0.00003
NM_002890.3(RASA1):c.3067T>C (p.Leu1023=) rs3747704 0.00003
NM_000020.3(ACVRL1):c.61+7A>T rs200221603 0.00002
NM_001114753.3(ENG):c.1217G>A (p.Arg406His) rs149065210 0.00002
NM_001114753.3(ENG):c.805A>G (p.Met269Val) rs1323617205 0.00002
NM_002890.3(RASA1):c.2288A>T (p.Glu763Val) rs373098580 0.00002
NM_001114753.3(ENG):c.108C>T (p.Gly36=) rs748898883 0.00001
NM_001114753.3(ENG):c.1097A>G (p.Asp366Gly) rs932659087 0.00001
NM_001114753.3(ENG):c.278G>A (p.Arg93Gln) rs532649202 0.00001
NM_001114753.3(ENG):c.376A>G (p.Thr126Ala) rs1564456742 0.00001
NM_001114753.3(ENG):c.442G>C (p.Glu148Gln) rs770290260 0.00001
NM_001114753.3(ENG):c.590G>A (p.Arg197Gln) rs770898485 0.00001
NM_001114753.3(ENG):c.675G>A (p.Pro225=) rs757608428 0.00001
NM_001114753.3(ENG):c.680A>G (p.His227Arg) rs377548944 0.00001
NM_001114753.3(ENG):c.943G>A (p.Val315Met) rs763508329 0.00001
NM_002890.3(RASA1):c.126G>T (p.Leu42=) rs569976773 0.00001
NC_000012.12:g.51907469G>C rs1002184603
NM_000020.3(ACVRL1):c.*1042C>G rs56683171
NM_000020.3(ACVRL1):c.*1042C>T rs56683171
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+745G>A
NM_000020.3(ACVRL1):c.1378-248del rs202089535
NM_000020.3(ACVRL1):c.1378-49C>T
NM_000020.3(ACVRL1):c.1378-595_1378-594insAGTTGATGAGCTTCCTGGGATG rs1344683257
NM_000020.3(ACVRL1):c.314-13C>T
NM_000020.3(ACVRL1):c.314-49G>C rs200624173
NM_000020.3(ACVRL1):c.625+110_625+121del rs1592223149
NM_000020.3(ACVRL1):c.625+110_625+130del rs67833112
NM_001114753.3(ENG):c.*320G>A rs41478248
NM_001114753.3(ENG):c.-115G>C rs546892762
NM_001114753.3(ENG):c.1272+20del
NM_001114753.3(ENG):c.1365C>T (p.Tyr455=)
NM_001114753.3(ENG):c.1429-9_1429-6dup rs762494923
NM_001114753.3(ENG):c.1509C>T (p.Thr503=)
NM_001114753.3(ENG):c.1532C>T (p.Ala511Val)
NM_001114753.3(ENG):c.153G>C (p.Lys51Asn)
NM_001114753.3(ENG):c.1583C>G (p.Pro528Arg)
NM_001114753.3(ENG):c.15G>A (p.Thr5=)
NM_001114753.3(ENG):c.1687-19CT[2] rs566728279
NM_001114753.3(ENG):c.1742-16C>T
NM_001114753.3(ENG):c.176A>G (p.Asn59Ser)
NM_001114753.3(ENG):c.1852+20A>G
NM_001114753.3(ENG):c.269C>T (p.Thr90Ile)
NM_001114753.3(ENG):c.507C>T (p.Leu169=) rs750014839
NM_001114753.3(ENG):c.565G>A (p.Asp189Asn) rs147792018
NM_001114753.3(ENG):c.585G>C (p.Glu195Asp)
NM_001114753.3(ENG):c.602C>A (p.Pro201Gln)
NM_001114753.3(ENG):c.699G>A (p.Thr233=)
NM_001114753.3(ENG):c.816+20C>T
NM_001114753.3(ENG):c.909C>T (p.Ala303=) rs200306464
NM_001114753.3(ENG):c.933G>T (p.Val311=)
NM_002890.3(RASA1):c.1333-10dup rs775819060
NM_002890.3(RASA1):c.1454-7del rs60835976
NM_002890.3(RASA1):c.1454-7dup rs60835976
NM_002890.3(RASA1):c.1454-9_1454-7del
NM_002890.3(RASA1):c.1777-3del rs377722838
NM_002890.3(RASA1):c.1777-3dup rs377722838
NM_002890.3(RASA1):c.2488-3del
NM_002890.3(RASA1):c.360C>G (p.Pro120=) rs137878395
NM_002890.3(RASA1):c.612T>C (p.Tyr204=) rs377014568
NM_002890.3(RASA1):c.693-14dup rs776195697
NM_004444.5(EPHB4):c.1314T>C (p.Ser438=) rs144173
NM_004444.5(EPHB4):c.250G>A (p.Val84Ile)
NM_004444.5(EPHB4):c.52+14C>G rs2304374
NM_005359.6(SMAD4):c.*5631AC[3] rs368759758
NM_005359.6(SMAD4):c.*5691_*5693del rs374306389
NM_005359.6(SMAD4):c.*5863_*5867del rs78989198
NM_016204.4(GDF2):c.346+18A>G

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