ClinVar Miner

List of variants reported as pathogenic for Capillary malformation-arteriovenous malformation 2 by SIB Swiss Institute of Bioinformatics

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Total variants: 3

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HGVS	dbSNP	gnomAD frequency
NM_004444.5(EPHB4):c.1123G>T (p.Gly375Ter)	rs1484547615
NM_004444.5(EPHB4):c.2590C>T (p.Arg864Trp)	rs769965440
NM_004444.5(EPHB4):c.389G>A (p.Trp130Ter)	rs1584666961

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