ClinVar Miner

List of variants in gene CCM2 reported as pathogenic for cerebral cavernous malformation

Included ClinVar conditions (6):
Minimum submission review status: Collection method:
Minimum conflict level:
Gene type:
ClinVar version:
Total variants: 64
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HGVS dbSNP gnomAD frequency
NM_031443.4(CCM2):c.55C>T (p.Arg19Ter) rs755800734 0.00001
NM_031443.4(CCM2):c.839C>G (p.Ser280Ter) rs1437280900 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_031443.4(CCM2):c.1071_1074dup (p.Glu359delinsProTer) rs2128637642
NM_031443.4(CCM2):c.1078A>T (p.Lys360Ter) rs767248510
NM_031443.4(CCM2):c.1234dup (p.Arg412fs) rs1331484727
NM_031443.4(CCM2):c.1250_1251del (p.Glu417fs) rs1562921605
NM_031443.4(CCM2):c.130_131del (p.Thr44fs) rs1797324598
NM_031443.4(CCM2):c.147del (p.Leu49fs) rs2128729172
NM_031443.4(CCM2):c.151G>T (p.Glu51Ter) rs2128729177
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.199dup (p.Val67fs)
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+1G>A rs1562906981
NM_031443.4(CCM2):c.289-1G>A rs1562907365
NM_031443.4(CCM2):c.289-2A>G
NM_031443.4(CCM2):c.291del (p.Ala98fs)
NM_031443.4(CCM2):c.298C>T (p.Gln100Ter) rs1259805013
NM_031443.4(CCM2):c.305dup (p.His104fs) rs2128747608
NM_031443.4(CCM2):c.319C>T (p.Gln107Ter) rs137852841
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.369dup (p.Trp124fs)
NM_031443.4(CCM2):c.402_405dup (p.Ile136fs) rs1583970495
NM_031443.4(CCM2):c.42_43insATTTAAACGAGTATTTAAA (p.Ser15delinsIleTer) rs1554365511
NM_031443.4(CCM2):c.43delinsATTTAAACGAGTATTTAAA (p.Ser15delinsIleTer)
NM_031443.4(CCM2):c.467del (p.Lys156fs)
NM_031443.4(CCM2):c.472+1G>C rs745710633
NM_031443.4(CCM2):c.473-2A>G rs1798890807
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.528_532del (p.Leu177fs) rs2128749865
NM_031443.4(CCM2):c.593T>G (p.Leu198Arg) rs137852843
NM_031443.4(CCM2):c.609G>A (p.Lys203=) rs1562912528
NM_031443.4(CCM2):c.610-1G>A rs1562913873
NM_031443.4(CCM2):c.631del (p.Cys211fs)
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.71del (p.Gly24fs) rs1562881854
NM_031443.4(CCM2):c.745+1G>C rs1583984070
NM_031443.4(CCM2):c.745+2T>C rs1798979994
NM_031443.4(CCM2):c.790del (p.Glu264fs) rs1562917629
NM_031443.4(CCM2):c.83_87del (p.Arg28fs) rs2128729105
NM_031443.4(CCM2):c.93del (p.Ala32fs) rs2128729110
NM_031443.4(CCM2):c.970G>T (p.Glu324Ter) rs756276859

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