ClinVar Miner

List of variants reported as pathogenic for cerebral cavernous malformation by OMIM

Included ClinVar conditions (6):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 30
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HGVS dbSNP gnomAD frequency
NC_000003.12:g.(?_167683298_(167734892_?)del
NC_000007.14:g.(45018761_45019059)_(45095530_45095828)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_007217.4(PDCD10):c.103C>T (p.Arg35Ter) rs1057517786
NM_007217.4(PDCD10):c.385C>T (p.Gln129Ter) rs1577329665
NM_007217.4(PDCD10):c.475-1G>A rs1577317859
NM_007217.4(PDCD10):c.557+4_557+7del rs1553759042
NM_007217.4(PDCD10):c.97_150del rs2108438229
NM_031443.4(CCM2):c.1250_1251del (p.Glu417fs) rs1562921605
NM_031443.4(CCM2):c.169_172del (p.Arg57fs) rs1562882045
NM_031443.4(CCM2):c.1A>G (p.Met1Val) rs137852842
NM_031443.4(CCM2):c.23del (p.Gly8fs) rs1562848466
NM_031443.4(CCM2):c.288+1G>A rs1562906981
NM_031443.4(CCM2):c.30+5_30+6delinsTT rs797044623
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.593T>G (p.Leu198Arg) rs137852843
NM_031443.4(CCM2):c.610-1G>A rs1562913873
NM_194454.3(KRIT1):c.1362_1363del (p.Gln455fs) rs1180476377
NM_194454.3(KRIT1):c.1363C>T (p.Gln455Ter) rs267607203
NM_194454.3(KRIT1):c.1867dup (p.Arg623fs) rs2131309179
NM_194454.3(KRIT1):c.1879C>T (p.Gln627Ter) rs2131309013
NM_194454.3(KRIT1):c.1940del (p.Lys647fs) rs2131308132
NM_194454.3(KRIT1):c.410A>G (p.Asp137Gly) rs137853139
NM_194454.3(KRIT1):c.601C>G (p.Gln201Glu) rs137853140
NM_194454.3(KRIT1):c.845+2T>C rs1563302930
NM_194454.3(KRIT1):c.987C>A (p.Cys329Ter) rs267607204

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