List of variants in gene EPHB4 reported as likely pathogenic for 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: 13

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HGVS	dbSNP	gnomAD frequency
NM_004444.5(EPHB4):c.1124dup (p.Asp376fs)	rs2116450530
NM_004444.5(EPHB4):c.1153dup (p.Asp385fs)	rs761905713
NM_004444.5(EPHB4):c.1402G>A (p.Glu468Lys)
NM_004444.5(EPHB4):c.1541G>A (p.Gly514Asp)	rs2116443777
NM_004444.5(EPHB4):c.1861_1864dup (p.Gly622fs)	rs2116432544
NM_004444.5(EPHB4):c.1950G>T (p.Lys650Asn)	rs1584658113
NM_004444.5(EPHB4):c.1990G>A (p.Glu664Lys)	rs1562969219
NM_004444.5(EPHB4):c.2044G>A (p.Val682Met)	rs2116431583
NM_004444.5(EPHB4):c.2102T>G (p.Leu701Arg)	rs1812966939
NM_004444.5(EPHB4):c.2197G>T (p.Glu733Ter)
NM_004444.5(EPHB4):c.2233A>G (p.Asn745Asp)	rs1584654433
NM_004444.5(EPHB4):c.410A>T (p.Lys137Met)	rs1813296662
NM_004444.5(EPHB4):c.732dup (p.Trp245fs)

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