ClinVar Miner

List of variants in gene combination CCM2, LOC129998395 reported as likely pathogenic for cerebral cavernous malformation

Included ClinVar conditions (8):

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: 2

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HGVS	dbSNP	gnomAD frequency
NM_031443.4(CCM2):c.30+5G>T	rs773187380	0.00002
NM_031443.4(CCM2):c.7G>T (p.Glu3Ter)	rs1795541254

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