ClinVar Miner

Variants in gene EPHB4 with conflicting interpretations "uncertain significance" and "likely benign"

Submission 1 (uncertain significance) minimum review status: Submission 1 (uncertain significance) method:
Submission 2 (likely benign) minimum review status: Submission 2 (likely benign) method:
Gene type:
ClinVar version:
Total variants with conflicting interpretations: 33
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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.1384G>A (p.Gly462Arg) rs146674844 0.00036
NM_004444.5(EPHB4):c.935G>A (p.Arg312His) rs765819602 0.00008
NM_004444.5(EPHB4):c.1373G>A (p.Arg458Gln) rs542863867 0.00007
NM_004444.5(EPHB4):c.1151G>A (p.Arg384Gln) rs569874323 0.00005
NM_004444.5(EPHB4):c.1625C>T (p.Ala542Val) rs201096509 0.00005
NM_004444.5(EPHB4):c.242G>A (p.Arg81Gln) rs746477743 0.00005
NM_004444.5(EPHB4):c.848G>A (p.Gly283Glu) rs201531252 0.00005
NM_004444.5(EPHB4):c.187G>C (p.Val63Leu) rs752453773 0.00004
NM_004444.5(EPHB4):c.650T>A (p.Val217Glu) rs758312302 0.00004
NM_004444.5(EPHB4):c.1084C>T (p.Arg362Trp) rs767351699 0.00003
NM_004444.5(EPHB4):c.1555G>A (p.Gly519Ser) rs761047725 0.00003
NM_004444.5(EPHB4):c.1961C>T (p.Thr654Met) rs765067395 0.00003
NM_004444.5(EPHB4):c.2257G>A (p.Val753Ile) rs368484374 0.00003
NM_004444.5(EPHB4):c.2837A>G (p.Asp946Gly) rs780095931 0.00003
NM_004444.5(EPHB4):c.998G>A (p.Arg333His) rs1056350781 0.00003
NM_004444.5(EPHB4):c.247G>A (p.Ala83Thr) rs371690893 0.00002
NM_004444.5(EPHB4):c.2704C>T (p.Arg902Trp) rs200953030 0.00002
NM_004444.5(EPHB4):c.1405G>A (p.Val469Ile) rs775083333 0.00001
NM_004444.5(EPHB4):c.1576A>G (p.Thr526Ala) rs771353399 0.00001
NM_004444.5(EPHB4):c.2750G>A (p.Arg917Gln) rs778891426 0.00001
NM_004444.5(EPHB4):c.2767A>G (p.Arg923Gly) rs753634998 0.00001
NM_004444.5(EPHB4):c.2930C>T (p.Pro977Leu) rs773050327 0.00001
NM_004444.5(EPHB4):c.323A>G (p.Lys108Arg) rs780180360 0.00001
NM_004444.5(EPHB4):c.428C>T (p.Ala143Val) rs767324545 0.00001
NM_004444.5(EPHB4):c.1096C>A (p.Pro366Thr) rs369954495
NM_004444.5(EPHB4):c.1611G>C (p.Gln537His)
NM_004444.5(EPHB4):c.272G>A (p.Arg91His) rs764620067
NM_004444.5(EPHB4):c.419C>T (p.Thr140Met) rs200549250
NM_004444.5(EPHB4):c.623C>T (p.Pro208Leu) rs111749768
NM_004444.5(EPHB4):c.965-3C>T rs1813176722

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