List of variants in gene CCM2 reported as pathogenic by OMIM

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Gene type: Distinguish antisense genes from sense genes
Show significances as they were submitted (without aggregation into standard terms)
		ClinVar version:

Total variants: 12

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HGVS	dbSNP	gnomAD frequency
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_031443.4(CCM2):c.1250_1251del (p.Glu417fs)	rs1562921605
NM_031443.4(CCM2):c.169_172del (p.Arg57fs)	rs1562882045
NM_031443.4(CCM2):c.288+1G>A	rs1562906981
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

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