ClinVar Miner

List of variants in gene CCM2 studied for cerebral cavernous malformation

Included ClinVar conditions (6):
Minimum submission review status: Collection method:
Minimum conflict level:
Gene type:
ClinVar version:
Total variants: 188
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HGVS dbSNP gnomAD frequency
NM_031443.4(CCM2):c.31-10585G>C rs2289365 0.23198
NM_031443.4(CCM2):c.915G>A (p.Thr305=) rs2289367 0.22659
NM_031443.4(CCM2):c.358G>A (p.Val120Ile) rs11552377 0.13068
NM_031443.4(CCM2):c.157G>A (p.Val53Ile) rs2107732 0.06147
NM_031443.4(CCM2):c.351G>A (p.Ala117=) rs35888291 0.03813
NM_031443.4(CCM2):c.384G>A (p.Glu128=) rs73694268 0.01100
NM_031443.4(CCM2):c.984G>A (p.Gly328=) rs112504276 0.00732
NM_031443.4(CCM2):c.866G>A (p.Ser289Asn) rs2289366 0.00694
NM_031443.4(CCM2):c.804-12del rs533909649 0.00408
NM_031443.4(CCM2):c.804-5C>T rs145003686 0.00232
NM_031443.4(CCM2):c.804-9C>G rs150362858 0.00201
NM_031443.4(CCM2):c.30+2639G>A rs181735976 0.00195
NM_031443.4(CCM2):c.288+179G>C rs137874552 0.00184
NM_031443.4(CCM2):c.246C>T (p.Pro82=) rs148244188 0.00183
NM_031443.4(CCM2):c.31-18122A>T rs182880220 0.00172
NM_031443.4(CCM2):c.1260G>A (p.Glu420=) rs2304691 0.00136
NM_031443.4(CCM2):c.636G>C (p.Leu212=) rs150076154 0.00131
NM_031443.4(CCM2):c.980A>G (p.Asn327Ser) rs150428392 0.00128
NM_031443.4(CCM2):c.1217C>T (p.Thr406Met) rs150734280 0.00119
NM_031443.4(CCM2):c.803+17C>G rs374335278 0.00106
NM_031443.4(CCM2):c.1055-6C>T rs187505526 0.00104
NM_031443.4(CCM2):c.735C>T (p.Ser245=) rs199682975 0.00053
NM_031443.4(CCM2):c.339C>T (p.Leu113=) rs146259619 0.00032
NM_031443.4(CCM2):c.126G>A (p.Leu42=) rs146579519 0.00021
NM_031443.4(CCM2):c.1284C>T (p.Ile428=) rs144918172 0.00020
NM_031443.4(CCM2):c.328G>A (p.Asp110Asn) rs41280666 0.00019
NM_031443.4(CCM2):c.222G>A (p.Thr74=) rs375331762 0.00014
NM_031443.4(CCM2):c.720G>A (p.Pro240=) rs534266433 0.00013
NM_031443.4(CCM2):c.204+2040T>C rs564132631 0.00012
NM_031443.4(CCM2):c.1238C>T (p.Ser413Leu) rs143962510 0.00011
NM_031443.4(CCM2):c.568G>A (p.Val190Met) rs200358025 0.00011
NM_031443.4(CCM2):c.31-14922C>T rs776682467 0.00009
NM_031443.4(CCM2):c.915+11G>A rs2289368 0.00007
NM_031443.4(CCM2):c.1203T>C (p.Asn401=) rs367740781 0.00006
NM_031443.4(CCM2):c.1091A>G (p.His364Arg) rs201559289 0.00005
NM_031443.4(CCM2):c.665C>T (p.Thr222Met) rs370245890 0.00005
NM_031443.4(CCM2):c.160G>A (p.Glu54Lys) rs759104121 0.00004
NM_031443.4(CCM2):c.612C>T (p.Val204=) rs181474100 0.00004
NM_031443.4(CCM2):c.883G>A (p.Ala295Thr) rs762020337 0.00004
NM_031443.4(CCM2):c.48A>T (p.Pro16=) rs142320735 0.00003
NM_031443.4(CCM2):c.556G>A (p.Ala186Thr) rs758091168 0.00002
NM_031443.4(CCM2):c.1023C>A (p.Leu341=) rs1174989938 0.00001
NM_031443.4(CCM2):c.1026C>T (p.Tyr342=) rs556953955 0.00001
NM_031443.4(CCM2):c.221C>T (p.Thr74Met) rs750771937 0.00001
NM_031443.4(CCM2):c.472+16G>A rs1798687606 0.00001
NM_031443.4(CCM2):c.55C>T (p.Arg19Ter) rs755800734 0.00001
NM_031443.4(CCM2):c.589A>C (p.Ile197Leu) rs1798899357 0.00001
NM_031443.4(CCM2):c.744C>T (p.Ser248=) rs1240228560 0.00001
NM_031443.4(CCM2):c.777G>A (p.Glu259=) rs765305537 0.00001
NM_031443.4(CCM2):c.830G>A (p.Gly277Asp) rs1421166194 0.00001
NM_031443.4(CCM2):c.839C>G (p.Ser280Ter) rs1437280900 0.00001
NM_031443.4(CCM2):c.989C>T (p.Ser330Phe) rs779374000 0.00001
NC_000007.13:g.(?_45039933)_(45039982_?)del
NC_000007.13:g.(?_45039933)_(45115674_?)del
NC_000007.13:g.(?_45067284)_(45115676_?)del
NC_000007.13:g.(?_45077832)_(45115674_?)del
NC_000007.13:g.(?_45103497)_(45109580_?)del
NC_000007.13:g.(?_45103497)_(45115674_?)del
NC_000007.13:g.(?_45109405)_(45109580_?)del
NC_000007.14:g.(45018761_45019059)_(45095530_45095828)del
NC_000007.14:g.(?_45038233)_(45038446_?)del
NM_001029835.2(CCM2):c.401T>C (p.Leu134Pro)
NM_001029835.2(CCM2):c.428T>G (p.Leu143Arg)
NM_001029835.2(CCM2):c.430G>C (p.Ala144Pro)
NM_001029835.2(CCM2):c.656T>C (p.Leu219Pro)
NM_031443.3(CCM2):c.-613A>G rs1554353188
NM_031443.4(CCM2):c.1071_1074dup (p.Glu359delinsProTer) rs2128637642
NM_031443.4(CCM2):c.1078A>T (p.Lys360Ter) rs767248510
NM_031443.4(CCM2):c.1115T>C (p.Ile372Thr)
NM_031443.4(CCM2):c.1120G>A (p.Val374Met) rs200669376
NM_031443.4(CCM2):c.1134C>T (p.Arg378=)
NM_031443.4(CCM2):c.1164C>T (p.His388=)
NM_031443.4(CCM2):c.1180A>G (p.Thr394Ala) rs368380083
NM_031443.4(CCM2):c.1201A>G (p.Asn401Asp)
NM_031443.4(CCM2):c.120C>T (p.Arg40=)
NM_031443.4(CCM2):c.1234dup (p.Arg412fs) rs1331484727
NM_031443.4(CCM2):c.1250_1251del (p.Glu417fs) rs1562921605
NM_031443.4(CCM2):c.1252G>A (p.Gly418Arg)
NM_031443.4(CCM2):c.1278G>A (p.Ser426=) rs371498958
NM_031443.4(CCM2):c.1299G>A (p.Glu433=) rs1784232769
NM_031443.4(CCM2):c.130_131del (p.Thr44fs) rs1797324598
NM_031443.4(CCM2):c.1322A>G (p.Gln441Arg)
NM_031443.4(CCM2):c.147del (p.Leu49fs) rs2128729172
NM_031443.4(CCM2):c.151G>T (p.Glu51Ter) rs2128729177
NM_031443.4(CCM2):c.156C>T (p.Arg52=)
NM_031443.4(CCM2):c.166del (p.Asp56fs)
NM_031443.4(CCM2):c.169A>T (p.Arg57Ter) rs1562882049
NM_031443.4(CCM2):c.169_172del (p.Arg57fs) rs1562882045
NM_031443.4(CCM2):c.180C>T (p.Ser60=)
NM_031443.4(CCM2):c.193_195del (p.Lys65del) rs1797329314
NM_031443.4(CCM2):c.199dup (p.Val67fs)
NM_031443.4(CCM2):c.204+11A>G
NM_031443.4(CCM2):c.204+3A>C
NM_031443.4(CCM2):c.205-11866_205-11863del rs547206569
NM_031443.4(CCM2):c.205-18T>G rs2128747278
NM_031443.4(CCM2):c.214C>T (p.Gln72Ter) rs886041157
NM_031443.4(CCM2):c.219_220del (p.Leu73fs) rs1562906798
NM_031443.4(CCM2):c.228dup (p.Pro77fs) rs2128747319
NM_031443.4(CCM2):c.288+11C>T
NM_031443.4(CCM2):c.288+1G>A rs1562906981
NM_031443.4(CCM2):c.288G>T (p.Lys96Asn)
NM_031443.4(CCM2):c.289-14G>A
NM_031443.4(CCM2):c.289-1G>A rs1562907365
NM_031443.4(CCM2):c.298C>T (p.Gln100Ter) rs1259805013
NM_031443.4(CCM2):c.30+4465C>T rs1554354900
NM_031443.4(CCM2):c.305dup (p.His104fs) rs2128747608
NM_031443.4(CCM2):c.31-14G>A
NM_031443.4(CCM2):c.31-1G>C
NM_031443.4(CCM2):c.31-2A>G rs1554365507
NM_031443.4(CCM2):c.317C>T (p.Thr106Ile) rs1798672293
NM_031443.4(CCM2):c.319C>T (p.Gln107Ter) rs137852841
NM_031443.4(CCM2):c.344T>G (p.Leu115Arg) rs2128747658
NM_031443.4(CCM2):c.346T>C (p.Ser116Pro) rs1562907616
NM_031443.4(CCM2):c.354C>A (p.Tyr118Ter) rs765548101
NM_031443.4(CCM2):c.357C>T (p.Asn119=)
NM_031443.4(CCM2):c.358_359delinsAA (p.Val120Asn)
NM_031443.4(CCM2):c.369dup (p.Trp124fs)
NM_031443.4(CCM2):c.400del (p.Val134fs) rs2128747719
NM_031443.4(CCM2):c.402_405dup (p.Ile136fs) rs1583970495
NM_031443.4(CCM2):c.419C>A (p.Ala140Asp) rs1208759821
NM_031443.4(CCM2):c.424G>A (p.Val142Ile)
NM_031443.4(CCM2):c.428_430del (p.Ser143del) rs1562907973
NM_031443.4(CCM2):c.42_43insATTTAAACGAGTATTTAAA (p.Ser15delinsIleTer) rs1554365511
NM_031443.4(CCM2):c.434T>G (p.Val145Gly)
NM_031443.4(CCM2):c.436C>T (p.Arg146Trp)
NM_031443.4(CCM2):c.438G>A (p.Arg146=) rs1280936139
NM_031443.4(CCM2):c.43delinsATTTAAACGAGTATTTAAA (p.Ser15delinsIleTer)
NM_031443.4(CCM2):c.467del (p.Lys156fs)
NM_031443.4(CCM2):c.472+13A>G
NM_031443.4(CCM2):c.472+17G>C rs1447843130
NM_031443.4(CCM2):c.472+1G>C rs745710633
NM_031443.4(CCM2):c.473-2A>G rs1798890807
NM_031443.4(CCM2):c.487A>G (p.Ile163Val)
NM_031443.4(CCM2):c.48A>G (p.Pro16=)
NM_031443.4(CCM2):c.499C>T (p.Gln167Ter)
NM_031443.4(CCM2):c.499_500del (p.Gln167fs)
NM_031443.4(CCM2):c.50_54del (p.Phe17fs)
NM_031443.4(CCM2):c.526G>A (p.Gly176Ser) rs2128749861
NM_031443.4(CCM2):c.528_532del (p.Leu177fs) rs2128749865
NM_031443.4(CCM2):c.544C>T (p.Leu182=)
NM_031443.4(CCM2):c.549G>A (p.Ser183=)
NM_031443.4(CCM2):c.559G>T (p.Val187Phe)
NM_031443.4(CCM2):c.55C>A (p.Arg19=)
NM_031443.4(CCM2):c.584T>G (p.Leu195Arg) rs1562912426
NM_031443.4(CCM2):c.593T>G (p.Leu198Arg) rs137852843
NM_031443.4(CCM2):c.609+18C>A
NM_031443.4(CCM2):c.609+18C>T rs201140198
NM_031443.4(CCM2):c.609G>A (p.Lys203=) rs1562912528
NM_031443.4(CCM2):c.610-1G>A rs1562913873
NM_031443.4(CCM2):c.617C>A (p.Ala206Glu) rs777710102
NM_031443.4(CCM2):c.631del (p.Cys211fs)
NM_031443.4(CCM2):c.635T>C (p.Leu212Pro) rs1554377652
NM_031443.4(CCM2):c.636G>T (p.Leu212=)
NM_031443.4(CCM2):c.638T>C (p.Leu213Pro) rs1583983649
NM_031443.4(CCM2):c.643C>T (p.Gln215Ter) rs1798970889
NM_031443.4(CCM2):c.652C>T (p.Gln218Ter)
NM_031443.4(CCM2):c.652del (p.Gln218fs)
NM_031443.4(CCM2):c.663del (p.Val220_Tyr221insTer)
NM_031443.4(CCM2):c.677T>G (p.Ile226Ser)
NM_031443.4(CCM2):c.679G>A (p.Asp227Asn) rs770430978
NM_031443.4(CCM2):c.684T>C (p.Phe228=)
NM_031443.4(CCM2):c.698T>C (p.Ile233Thr) rs1798975615
NM_031443.4(CCM2):c.71del (p.Gly24fs) rs1562881854
NM_031443.4(CCM2):c.732G>A (p.Leu244=)
NM_031443.4(CCM2):c.745+19G>A
NM_031443.4(CCM2):c.745+1G>C rs1583984070
NM_031443.4(CCM2):c.745+2T>C rs1798979994
NM_031443.4(CCM2):c.746-17C>T
NM_031443.4(CCM2):c.766G>A (p.Asp256Asn)
NM_031443.4(CCM2):c.783C>T (p.Tyr261=)
NM_031443.4(CCM2):c.790del (p.Glu264fs) rs1562917629
NM_031443.4(CCM2):c.803+1G>A
NM_031443.4(CCM2):c.804-14A>T
NM_031443.4(CCM2):c.806G>T (p.Cys269Phe) rs2128752334
NM_031443.4(CCM2):c.83_87del (p.Arg28fs) rs2128729105
NM_031443.4(CCM2):c.885C>T (p.Ala295=)
NM_031443.4(CCM2):c.915+16A>G
NM_031443.4(CCM2):c.915+2T>C
NM_031443.4(CCM2):c.916-1G>T
NM_031443.4(CCM2):c.916-3C>T rs373072247
NM_031443.4(CCM2):c.916-7C>G rs551511374
NM_031443.4(CCM2):c.916-7C>T
NM_031443.4(CCM2):c.926A>G (p.Lys309Arg)
NM_031443.4(CCM2):c.93A>C (p.Lys31Asn)
NM_031443.4(CCM2):c.93del (p.Ala32fs) rs2128729110
NM_031443.4(CCM2):c.958G>T (p.Ala320Ser)
NM_031443.4(CCM2):c.970G>T (p.Glu324Ter) rs756276859
NM_031443.4(CCM2):c.992T>C (p.Ile331Thr)

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