ClinVar Miner

List of variants reported as likely pathogenic for capillary malformation-arteriovenous malformation syndrome by Juno Genomics, Hangzhou Juno Genomics, Inc

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_004444.5(EPHB4):c.1093C>T (p.Arg365Ter)	rs1279971868	0.00001
NM_004444.5(EPHB4):c.1161_1162dup (p.Glu388fs)
NM_004444.5(EPHB4):c.1918_1919insCTT (p.Lys640delinsThrTer)

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