ClinVar Miner

List of variants reported as likely pathogenic for cerebral cavernous malformation by Hehr Laboratory, Center for Human Genetics Regensburg

Included ClinVar conditions (6):

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

Total variants: 3

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HGVS	dbSNP	gnomAD frequency
NM_007217.4(PDCD10):c.575dup (p.Ser193fs)	rs1559941951
NM_031443.4(CCM2):c.584T>G (p.Leu195Arg)	rs1562912426
NM_194454.3(KRIT1):c.896del (p.Gly299fs)	rs1563301954

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