List of variants in gene EPHB4 reported as uncertain significance 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: 16

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HGVS	dbSNP	gnomAD frequency
NM_004444.5(EPHB4):c.1190G>A (p.Arg397His)	rs538766032	0.00003
NM_004444.5(EPHB4):c.1546G>A (p.Gly516Arg)	rs776305185	0.00001
NM_004444.5(EPHB4):c.2173G>A (p.Ala725Thr)	rs1159930961	0.00001
NM_004444.5(EPHB4):c.1109G>T (p.Cys370Phe)
NM_004444.5(EPHB4):c.1362G>C (p.Trp454Cys)	rs2116447376
NM_004444.5(EPHB4):c.1406T>G (p.Val469Gly)	rs1584662591
NM_004444.5(EPHB4):c.175G>A (p.Glu59Lys)	rs1584667224
NM_004444.5(EPHB4):c.1966C>T (p.Arg656Trp)	rs745584371
NM_004444.5(EPHB4):c.2164C>T (p.Arg722Trp)	rs927472085
NM_004444.5(EPHB4):c.221G>C (p.Arg74Pro)	rs61735971
NM_004444.5(EPHB4):c.282G>T (p.Met94Ile)
NM_004444.5(EPHB4):c.319T>C (p.Cys107Arg)	rs1562974383
NM_004444.5(EPHB4):c.560T>C (p.Leu187Pro)	rs1584666053
NM_004444.5(EPHB4):c.802T>C (p.Cys268Arg)	rs201816920
NM_004444.5(EPHB4):c.853T>C (p.Cys285Arg)
NM_004444.5(EPHB4):c.964+3A>T

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