ClinVar Miner

List of variants in gene EPHB4 reported as uncertain significance by GeneDx

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Total variants: 40
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HGVS dbSNP gnomAD frequency
NM_004444.5(EPHB4):c.1144G>A (p.Gly382Ser) rs114926839 0.00226
NM_004444.5(EPHB4):c.1692-6C>A rs202035530 0.00051
NM_004444.5(EPHB4):c.682G>A (p.Val228Ile) rs146902369 0.00048
NM_004444.5(EPHB4):c.1692-8G>A rs372971671 0.00016
NM_004444.5(EPHB4):c.1054C>T (p.Arg352Ter) rs898898802 0.00004
NM_004444.5(EPHB4):c.2837A>G (p.Asp946Gly) rs780095931 0.00003
NM_004444.5(EPHB4):c.247G>A (p.Ala83Thr) rs371690893 0.00002
NM_004444.5(EPHB4):c.1231G>A (p.Gly411Arg) rs144185458 0.00001
NM_004444.5(EPHB4):c.1330C>T (p.Arg444Trp) rs370505170 0.00001
NM_004444.5(EPHB4):c.221G>A (p.Arg74His) rs61735971 0.00001
NM_004444.5(EPHB4):c.881C>G (p.Ser294Cys) rs759058404 0.00001
NM_004444.5(EPHB4):c.1400A>G (p.Tyr467Cys) rs1584662598
NM_004444.5(EPHB4):c.1402G>A (p.Glu468Lys) rs977239511
NM_004444.5(EPHB4):c.1540G>A (p.Gly514Ser) rs1813097270
NM_004444.5(EPHB4):c.1756+5G>A
NM_004444.5(EPHB4):c.175G>A (p.Glu59Lys) rs1584667224
NM_004444.5(EPHB4):c.176A>G (p.Glu59Gly)
NM_004444.5(EPHB4):c.182G>C (p.Cys61Ser)
NM_004444.5(EPHB4):c.1850T>C (p.Ile617Thr)
NM_004444.5(EPHB4):c.1882G>C (p.Glu628Gln) rs1233930784
NM_004444.5(EPHB4):c.1895G>A (p.Gly632Glu)
NM_004444.5(EPHB4):c.1915A>G (p.Lys639Glu)
NM_004444.5(EPHB4):c.194G>C (p.Arg65Pro) rs751727413
NM_004444.5(EPHB4):c.2009A>G (p.Gln670Arg) rs2485016418
NM_004444.5(EPHB4):c.2017C>A (p.His673Asn) rs2485016393
NM_004444.5(EPHB4):c.2233A>C (p.Asn745His)
NM_004444.5(EPHB4):c.2233A>G (p.Asn745Asp) rs1584654433
NM_004444.5(EPHB4):c.2288G>A (p.Arg763Gln) rs2116419024
NM_004444.5(EPHB4):c.2314C>T (p.Pro772Ser)
NM_004444.5(EPHB4):c.255C>A (p.His85Gln)
NM_004444.5(EPHB4):c.2698G>C (p.Asp900His) rs200795996
NM_004444.5(EPHB4):c.288G>T (p.Glu96Asp) rs1264089421
NM_004444.5(EPHB4):c.54G>C (p.Glu18Asp) rs920385010
NM_004444.5(EPHB4):c.569T>G (p.Leu190Arg)
NM_004444.5(EPHB4):c.589T>C (p.Cys197Arg) rs1476077876
NM_004444.5(EPHB4):c.623C>T (p.Pro208Leu) rs111749768
NM_004444.5(EPHB4):c.670G>A (p.Val224Met) rs542686005
NM_004444.5(EPHB4):c.758_759delinsCT (p.Cys253Ser)
NM_004444.5(EPHB4):c.980C>T (p.Pro327Leu) rs1057515420
NM_004444.5(EPHB4):c.989T>C (p.Val330Ala)

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