List of variants in gene EPHB4 reported as likely pathogenic for Lymphatic malformation 7; Capillary malformation-arteriovenous malformation 2

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Gene type: Distinguish antisense genes from sense genes
Show significances as they were submitted (without aggregation into standard terms)
		ClinVar version:

Total variants: 4

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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.1738C>T (p.Gln580Ter)	rs2116434296
NM_004444.5(EPHB4):c.1918_1919insCTT (p.Lys640delinsThrTer)

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