ClinVar Miner

List of variants in gene EPHB4 studied for Lymphatic malformation 7; Capillary malformation-arteriovenous malformation 2

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Total variants: 13
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HGVS dbSNP gnomAD frequency
NM_004444.5(EPHB4):c.1743T>C (p.Tyr581=) rs116240595 0.00915
NM_004444.5(EPHB4):c.1112C>T (p.Ala371Val) rs55720981 0.00059
NM_004444.5(EPHB4):c.1067C>G (p.Thr356Ser) rs192640017 0.00021
NM_004444.5(EPHB4):c.1093C>T (p.Arg365Ter) rs1279971868 0.00001
NM_004444.5(EPHB4):c.250G>A (p.Val84Ile) rs201465765 0.00001
NM_004444.5(EPHB4):c.1039dup (p.Leu347fs) rs767827881
NM_004444.5(EPHB4):c.1161_1162dup (p.Glu388fs)
NM_004444.5(EPHB4):c.1526C>G (p.Ala509Gly) rs146937374
NM_004444.5(EPHB4):c.1738C>T (p.Gln580Ter) rs2116434296
NM_004444.5(EPHB4):c.1918_1919insCTT (p.Lys640delinsThrTer)
NM_004444.5(EPHB4):c.2182A>G (p.Met728Val)
NM_004444.5(EPHB4):c.623C>T (p.Pro208Leu) rs111749768
NM_004444.5(EPHB4):c.919G>A (p.Gly307Arg)

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