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

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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
NM_031443.4(CCM2):c.1250_1251del (p.Glu417fs)	rs1562921605
NM_031443.4(CCM2):c.169A>T (p.Arg57Ter)	rs1562882049
NM_031443.4(CCM2):c.31-1G>C
NM_031443.4(CCM2):c.31-2A>G	rs1554365507
NM_031443.4(CCM2):c.400del (p.Val134fs)	rs2128747719
NM_031443.4(CCM2):c.472+1G>C	rs745710633
NM_031443.4(CCM2):c.584T>G (p.Leu195Arg)	rs1562912426
NM_031443.4(CCM2):c.635T>C (p.Leu212Pro)	rs1554377652
NM_031443.4(CCM2):c.638T>C (p.Leu213Pro)	rs1583983649
NM_031443.4(CCM2):c.803+1G>A
NM_031443.4(CCM2):c.915+2T>C
NM_031443.4(CCM2):c.916-1G>T

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