List of variants in gene CCM2 reported as likely pathogenic by PreventionGenetics, part of Exact Sciences

Minimum submission review status:		Collection method:
Minimum conflict level: Report conflict between different conditions
Gene type: Distinguish antisense genes from sense genes
Show significances as they were submitted (without aggregation into standard terms)
		ClinVar version:

Total variants: 14

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HGVS	dbSNP	gnomAD frequency
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.134_135del (p.Val45fs)	rs1562881980
NM_031443.4(CCM2):c.160G>T (p.Glu54Ter)
NM_031443.4(CCM2):c.169A>T (p.Arg57Ter)	rs1562882049
NM_031443.4(CCM2):c.289-19_352del	rs1562907331
NM_031443.4(CCM2):c.289-1G>A	rs1562907365
NM_031443.4(CCM2):c.298del (p.Gln100fs)	rs1204653825
NM_031443.4(CCM2):c.447del (p.Ala150fs)
NM_031443.4(CCM2):c.586del (p.Val196fs)	rs1562912441
NM_031443.4(CCM2):c.609G>A (p.Lys203=)	rs1562912528
NM_031443.4(CCM2):c.790del (p.Glu264fs)	rs1562917629
NM_031443.4(CCM2):c.79_80del (p.Lys26_Ser27insTer)	rs1562881859

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