ClinVar Miner

List of variants reported as benign for capillary malformation

Included ClinVar conditions (13):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 164
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HGVS dbSNP
NC_000012.12:g.51907469G>C rs1002184603
NM_000020.2(ACVRL1):c.*1021T>C rs697631
NM_000020.2(ACVRL1):c.*1041G>T rs199949661
NM_000020.2(ACVRL1):c.*1042C>G rs56683171
NM_000020.2(ACVRL1):c.*1042C>T rs56683171
NM_000020.2(ACVRL1):c.*1246T>C rs706819
NM_000020.2(ACVRL1):c.*1560A>C rs80260084
NM_000020.2(ACVRL1):c.*1776C>T rs78150616
NM_000020.2(ACVRL1):c.*1926T>C rs2293094
NM_000020.2(ACVRL1):c.*2281G>T rs114323941
NM_000020.2(ACVRL1):c.*2313G>A rs61914025
NM_000020.2(ACVRL1):c.*2380C>G rs2293093
NM_000020.2(ACVRL1):c.*2398G>A rs2293092
NM_000020.2(ACVRL1):c.*2422A>G rs706820
NM_000020.2(ACVRL1):c.*423C>T rs114741844
NM_000020.2(ACVRL1):c.*499T>G rs572632343
NM_000020.2(ACVRL1):c.*560T>C rs706818
NM_000020.2(ACVRL1):c.*58G>A rs182368657
NM_000020.2(ACVRL1):c.*862G>A rs116256992
NM_000020.2(ACVRL1):c.*869C>T rs113690319
NM_000020.2(ACVRL1):c.*913C>T rs75074181
NM_000020.2(ACVRL1):c.*935G>C rs116740271
NM_000020.2(ACVRL1):c.*949C>T rs810052
NM_000020.2(ACVRL1):c.*992A>G rs567585207
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.1122G>T (p.Arg374=) rs187902433
NM_000020.2(ACVRL1):c.1161G>A (p.Thr387=) rs150140878
NM_000020.2(ACVRL1):c.1246+19C>T rs185343653
NM_000020.2(ACVRL1):c.1348A>G (p.Thr450Ala) rs146206499
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.207C>T (p.Cys69=) rs56080682
NM_000020.2(ACVRL1):c.313+40G>C rs376033978
NM_000020.2(ACVRL1):c.314-35A>G rs2071219
NM_000020.2(ACVRL1):c.330G>A (p.Ser110=) rs77341011
NM_000020.2(ACVRL1):c.625+164T>C rs77709482
NM_000020.2(ACVRL1):c.626-53C>T rs111245531
NM_000020.2(ACVRL1):c.642C>T (p.Gly214=) rs139008591
NM_000020.2(ACVRL1):c.817C>T (p.Leu273=) rs55802125
NM_000020.2(ACVRL1):c.88C>T (p.Pro30Ser) rs149664056
NM_000020.2(ACVRL1):c.993C>T (p.Phe331=) rs56379428
NM_000020.3(ACVRL1):c.-5-227C>G rs2277381
NM_000020.3(ACVRL1):c.1131A>G (p.Ala377=) rs61734313
NM_000020.3(ACVRL1):c.1246+9C>T rs115378744
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+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.1378-556C>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.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.543C>T (p.Asp181=) rs140970131
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.652C>T (p.Arg218Trp) rs199874575
NM_000020.3(ACVRL1):c.681C>T (p.Ala227=)
NM_000020.3(ACVRL1):c.747G>A (p.Val249=) rs1058563
NM_000020.3(ACVRL1):c.759C>T (p.His253=) rs374020751
NM_000020.3(ACVRL1):c.772+24C>T
NM_000020.3(ACVRL1):c.78G>A (p.Pro26=) rs774167132
NM_000118.3(ENG):c.-115G>C rs546892762
NM_000118.3(ENG):c.-54C>A rs2296702
NM_000118.3(ENG):c.112G>A (p.Glu38Lys) rs747481834
NM_000118.3(ENG):c.1135-7G>A rs201359896
NM_000118.3(ENG):c.1233C>T (p.Ser411=) rs137870512
NM_000118.3(ENG):c.1374A>G (p.Pro458=) rs34828244
NM_000118.3(ENG):c.1407G>A (p.Pro469=) rs41302657
NM_000118.3(ENG):c.1419C>T (p.Ser473=) rs561818608
NM_000118.3(ENG):c.1429-9_1429-6dup rs762494923
NM_000118.3(ENG):c.1452C>T (p.Ser484=) rs115450389
NM_000118.3(ENG):c.1455G>A (p.Glu485=) rs150456852
NM_000118.3(ENG):c.1510G>A (p.Val504Met) rs116330805
NM_000118.3(ENG):c.1533G>A (p.Ala511=) rs140760635
NM_000118.3(ENG):c.159C>T (p.Cys53=) rs148475405
NM_000118.3(ENG):c.1687-117G>A rs1330684
NM_000118.3(ENG):c.1761C>T (p.Leu587=) rs546872552
NM_000118.3(ENG):c.179C>A (p.Ala60Asp) rs146100407
NM_000118.3(ENG):c.180C>A (p.Ala60=) rs146188464
NM_000118.3(ENG):c.219+25G>T rs7847860
NM_000118.3(ENG):c.225G>A (p.Pro75=) rs116146060
NM_000118.3(ENG):c.234G>A (p.Leu78=) rs115675061
NM_000118.3(ENG):c.388C>T (p.Pro130Ser) rs199840979
NM_000118.3(ENG):c.392C>T (p.Pro131Leu) rs139398993
NM_000118.3(ENG):c.507C>T (p.Leu169=) rs750014839
NM_000118.3(ENG):c.524-15C>T rs201463582
NM_000118.3(ENG):c.595C>T (p.Arg199Cys) rs752195587
NM_000118.3(ENG):c.687C>T (p.Ala229=) rs376919650
NM_000118.3(ENG):c.690-59C>A rs369047677
NM_000118.3(ENG):c.69T>C (p.Ser23=) rs202048202
NM_000118.3(ENG):c.732C>T (p.Pro244=) rs112262663
NM_000118.3(ENG):c.991+26_991+27insCCCCTC rs1554810143
NM_001114753.3(ENG):c.*320G>A
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.108C>T (p.Gly36=)
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.14C>T (p.Thr5Met) rs35400405
NM_001114753.3(ENG):c.1633G>A (p.Gly545Ser) rs142896669
NM_001114753.3(ENG):c.1794T>C (p.Gly598=) rs41358947
NM_001114753.3(ENG):c.1844C>T (p.Ser615Leu) rs148002300
NM_001114753.3(ENG):c.1932C>T (p.Ile644=) rs181330955
NM_001114753.3(ENG):c.207G>A (p.Leu69=) rs11545664
NM_001114753.3(ENG):c.219+22C>T rs370257876
NM_001114753.3(ENG):c.572G>A (p.Gly191Asp) rs41322046
NM_001114753.3(ENG):c.909C>T (p.Ala303=) rs200306464
NM_002890.3(RASA1):c.*1001T>C
NM_002890.3(RASA1):c.*164A>G
NM_002890.3(RASA1):c.1102+10T>C rs150779406
NM_002890.3(RASA1):c.126G>T (p.Leu42=)
NM_002890.3(RASA1):c.1332+8T>C rs376637789
NM_002890.3(RASA1):c.1371G>A (p.Lys457=) rs140707293
NM_002890.3(RASA1):c.1394G>A (p.Arg465His) rs181630831
NM_002890.3(RASA1):c.1494G>A (p.Glu498=) rs200197533
NM_002890.3(RASA1):c.1583A>G (p.Tyr528Cys) rs145752649
NM_002890.3(RASA1):c.162G>C (p.Glu54Asp) rs201502793
NM_002890.3(RASA1):c.1777-14T>A rs36000817
NM_002890.3(RASA1):c.1777-15_1777-14insA rs202147617
NM_002890.3(RASA1):c.1968A>T (p.Ile656=) rs370819852
NM_002890.3(RASA1):c.209A>G (p.Glu70Gly) rs146525982
NM_002890.3(RASA1):c.224G>C (p.Gly75Ala) rs200002693
NM_002890.3(RASA1):c.2259C>T (p.Ala753=) rs552498036
NM_002890.3(RASA1):c.2286C>T (p.His762=) rs373059169
NM_002890.3(RASA1):c.2288A>T (p.Glu763Val) rs373098580
NM_002890.3(RASA1):c.2528C>A (p.Thr843Asn) rs184201084
NM_002890.3(RASA1):c.296C>T (p.Ala99Val) rs111840875
NM_002890.3(RASA1):c.304G>T (p.Val102Leu) rs115606026
NM_002890.3(RASA1):c.3067T>C (p.Leu1023=) rs3747704
NM_002890.3(RASA1):c.360C>A (p.Pro120=) rs137878395
NM_002890.3(RASA1):c.360C>G (p.Pro120=)
NM_002890.3(RASA1):c.384C>T (p.Leu128=) rs34385096
NM_002890.3(RASA1):c.612T>C (p.Tyr204=) rs377014568
NM_002890.3(RASA1):c.829-12T>A rs187379673
NM_005359.5(SMAD4):c.*5637_*5640delACAC rs368759758
NM_005359.6(SMAD4):c.*5691_*5693del rs374306389
NM_005359.6(SMAD4):c.*5863_*5867del rs78989198
NM_016204.4(GDF2):c.1017C>T (p.Ile339=) rs148730910
NM_016204.4(GDF2):c.346+10C>T rs117345807
NM_016204.4(GDF2):c.34C>T (p.Leu12=) rs61758973
NM_016204.4(GDF2):c.352A>T (p.Ile118Phe)
NM_016204.4(GDF2):c.378C>A (p.Phe126Leu) rs180821007
NM_016204.4(GDF2):c.615G>A (p.Leu205=)
NM_016204.4(GDF2):c.652G>A (p.Asp218Asn) rs142402214
NM_016204.4(GDF2):c.73C>T (p.Leu25=) rs200760960
NM_016204.4(GDF2):c.776A>G (p.Asn259Ser) rs140271276
NM_016204.4(GDF2):c.911C>T (p.Thr304Met) rs75024165

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