ClinVar Miner

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

Submission 1 (benign) minimum review status: Submission 1 (benign) method:
Submission 2 (likely benign) minimum review status: Submission 2 (likely benign) method:
Gene type:
ClinVar version:
Total variants with conflicting interpretations: 21
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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.1593C>T (p.Ser531=) rs55682161 0.00155
NM_004444.5(EPHB4):c.2864C>T (p.Ala955Val) rs139196073 0.00087
NM_004444.5(EPHB4):c.691C>T (p.Pro231Ser) rs147563837 0.00077
NM_004444.5(EPHB4):c.1692-6C>A rs202035530 0.00051
NM_004444.5(EPHB4):c.1384G>A (p.Gly462Arg) rs146674844 0.00036
NM_004444.5(EPHB4):c.918C>T (p.Val306=) rs151161414 0.00036
NM_004444.5(EPHB4):c.1017G>T (p.Leu339=) rs55867842 0.00031
NM_004444.5(EPHB4):c.1120G>A (p.Gly374Arg) rs534368922 0.00031
NM_004444.5(EPHB4):c.2277T>C (p.Phe759=) rs528672824 0.00028
NM_004444.5(EPHB4):c.1251G>A (p.Thr417=) rs202220624 0.00027
NM_004444.5(EPHB4):c.73T>C (p.Leu25=) rs144551580 0.00027
NM_004444.5(EPHB4):c.1079G>A (p.Arg360His) rs202006098 0.00026
NM_004444.5(EPHB4):c.2784C>T (p.Phe928=) rs200688295 0.00024
NM_004444.5(EPHB4):c.1067C>G (p.Thr356Ser) rs192640017 0.00021
NM_004444.5(EPHB4):c.2955G>A (p.Pro985=) rs56086910 0.00014
NM_004444.5(EPHB4):c.1632G>A (p.Thr544=) rs201252094 0.00009
NM_004444.5(EPHB4):c.133C>G (p.Leu45Val) rs149287966 0.00007
NM_004444.5(EPHB4):c.687C>T (p.Pro229=) rs560526074 0.00001
NM_004444.5(EPHB4):c.2949G>A (p.Pro983=) rs112803997
NM_004444.5(EPHB4):c.366G>A (p.Thr122=) rs146092347

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