ClinVar Miner

List of variants studied for capillary malformation by Fulgent Genetics, Fulgent Genetics

Included ClinVar conditions (18):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 87
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HGVS dbSNP gnomAD frequency
NM_002890.3(RASA1):c.296C>T (p.Ala99Val) rs111840875 0.02050
NM_001114753.3(ENG):c.572G>A (p.Gly191Asp) rs41322046 0.01000
NM_004444.5(EPHB4):c.1743T>C (p.Tyr581=) rs116240595 0.00915
NM_000020.3(ACVRL1):c.*1041G>T rs199949661 0.00887
NM_016204.4(GDF2):c.911C>T (p.Thr304Met) rs75024165 0.00530
NM_016204.4(GDF2):c.652G>A (p.Asp218Asn) rs142402214 0.00096
NM_002890.3(RASA1):c.360C>A (p.Pro120=) rs137878395 0.00061
NM_004444.5(EPHB4):c.1112C>T (p.Ala371Val) rs55720981 0.00059
NM_016204.4(GDF2):c.871G>A (p.Gly291Ser) rs201711410 0.00045
NM_000020.3(ACVRL1):c.-129G>A rs886049607 0.00032
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_004444.5(EPHB4):c.1067C>G (p.Thr356Ser) rs192640017 0.00021
NM_002890.3(RASA1):c.224G>C (p.Gly75Ala) rs200002693 0.00016
NM_000020.3(ACVRL1):c.652C>T (p.Arg218Trp) rs199874575 0.00014
NM_016204.4(GDF2):c.712G>A (p.Asp238Asn) rs137873272 0.00014
NM_000020.3(ACVRL1):c.917C>T (p.Ala306Val) rs150038846 0.00013
NM_000020.3(ACVRL1):c.*132G>A rs867355962 0.00012
NM_016204.4(GDF2):c.378C>A (p.Phe126Leu) rs180821007 0.00010
NM_001114753.3(ENG):c.1133C>T (p.Ala378Val) rs143054595 0.00009
NM_002890.3(RASA1):c.1209A>G (p.Pro403=) rs367991324 0.00009
NM_001114753.3(ENG):c.121G>A (p.Glu41Lys) rs199675436 0.00007
NM_000020.3(ACVRL1):c.376G>A (p.Val126Met) rs369146413 0.00006
NM_001114753.3(ENG):c.360C>T (p.Tyr120=) rs121918402 0.00006
NM_001114753.3(ENG):c.1711C>T (p.Arg571Cys) rs764262721 0.00005
NM_000020.3(ACVRL1):c.*1107G>T rs1459562251 0.00003
NM_000020.3(ACVRL1):c.*2268G>C rs929096514 0.00003
NM_000020.3(ACVRL1):c.1258G>A (p.Asp420Asn) rs1231598304 0.00003
NM_001114753.3(ENG):c.374T>C (p.Val125Ala) rs750115837 0.00003
NM_001114753.3(ENG):c.589C>T (p.Arg197Trp) rs780987528 0.00003
NM_016204.4(GDF2):c.732C>T (p.Val244=) rs145385373 0.00003
NM_000020.3(ACVRL1):c.1228C>T (p.Arg410Cys) rs781770577 0.00002
NM_000020.3(ACVRL1):c.431G>A (p.Arg144Gln) rs778058646 0.00002
NM_001114753.3(ENG):c.1876G>A (p.Val626Met) rs745843047 0.00002
NM_001114753.3(ENG):c.805A>G (p.Met269Val) rs1323617205 0.00002
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.1232G>A (p.Arg411Gln) rs121909284 0.00001
NM_001114753.3(ENG):c.1313A>G (p.Lys438Arg) rs755962839 0.00001
NM_001114753.3(ENG):c.1730C>G (p.Pro577Arg) rs759341808 0.00001
NM_001114753.3(ENG):c.1850C>T (p.Thr617Met) rs201031046 0.00001
NM_001114753.3(ENG):c.1970T>C (p.Met657Thr) rs768873662 0.00001
NM_001114753.3(ENG):c.442G>C (p.Glu148Gln) rs770290260 0.00001
NM_001114753.3(ENG):c.680A>G (p.His227Arg) rs377548944 0.00001
NM_002890.3(RASA1):c.2245C>T (p.Arg749Ter) rs1204340475 0.00001
NM_016204.4(GDF2):c.1281G>T (p.Gly427=) rs781842184 0.00001
NM_016204.4(GDF2):c.964G>A (p.Gly322Arg) rs782796080 0.00001
NM_000020.3(ACVRL1):c.*131C>T rs886049610
NM_000020.3(ACVRL1):c.*205G>A rs886049612
NM_000020.3(ACVRL1):c.1120C>T (p.Arg374Trp) rs28936401
NM_000020.3(ACVRL1):c.1177_1179delinsCAA (p.Tyr393Gln) rs1565595070
NM_000020.3(ACVRL1):c.1195T>C (p.Trp399Arg) rs1085307418
NM_000020.3(ACVRL1):c.1377G>A (p.Pro459=) rs61734312
NM_000020.3(ACVRL1):c.1435C>T (p.Arg479Ter) rs1057517944
NM_000020.3(ACVRL1):c.206G>T (p.Cys69Phe) rs1318118188
NM_000020.3(ACVRL1):c.270C>A (p.Cys90Ter) rs556168617
NM_000020.3(ACVRL1):c.369G>A (p.Leu123=) rs56301903
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.667G>A (p.Gly223Ser) rs1940782114
NM_000020.3(ACVRL1):c.982C>T (p.His328Tyr) rs1592224291
NM_000020.3(ACVRL1):c.998G>T (p.Ser333Ile) rs863223413
NM_000118.3(ENG):c.-339C>T rs554349374
NM_001114753.3(ENG):c.116G>A (p.Arg39Lys) rs892005175
NM_001114753.3(ENG):c.1263C>G (p.Ile421Met) rs760446518
NM_001114753.3(ENG):c.1273-2A>G rs373842615
NM_001114753.3(ENG):c.1472_1475del (p.Asp491fs) rs1830384910
NM_001114753.3(ENG):c.1687-1G>A rs1554809106
NM_001114753.3(ENG):c.1853-14GCTCCC[3] rs373296026
NM_001114753.3(ENG):c.277C>T (p.Arg93Ter) rs886039506
NM_001114753.3(ENG):c.321_322delinsTT (p.His108Tyr) rs1060501425
NM_001114753.3(ENG):c.387G>A (p.Glu129=) rs1588583668
NM_001114753.3(ENG):c.447G>C (p.Trp149Cys) rs878853657
NM_001114753.3(ENG):c.505C>T (p.Leu169Phe) rs2131890408
NM_001114753.3(ENG):c.583G>A (p.Glu195Lys) rs1255912441
NM_001114753.3(ENG):c.68-1G>A rs878853659
NM_001114753.3(ENG):c.715G>T (p.Glu239Ter) rs1064794220
NM_001114753.3(ENG):c.721_725del (p.Ser241fs) rs1064794219
NM_001114753.3(ENG):c.808C>T (p.Gln270Ter) rs1554810215
NM_001114753.3(ENG):c.889C>G (p.Gln297Glu) rs1830569895
NM_001114753.3(ENG):c.991G>A (p.Gly331Ser) rs1060501410
NM_002890.3(RASA1):c.2131C>T (p.Arg711Ter) rs863223718
NM_002890.3(RASA1):c.239C>T (p.Ala80Val) rs764720303
NM_002890.3(RASA1):c.2462T>A (p.Ile821Lys) rs2112495755
NM_002890.3(RASA1):c.3055C>T (p.Gln1019Ter) rs1060503440
NM_002890.3(RASA1):c.613_617del (p.Leu205fs) rs1060503441
NM_002890.3(RASA1):c.656C>G (p.Ser219Ter) rs1554044823

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