ClinVar Miner

List of variants in gene EPHB4 reported by ARUP Laboratories, Molecular Genetics and Genomics, ARUP Laboratories

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Gene type:
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Total variants: 30
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HGVS dbSNP gnomAD frequency
NM_004444.5(EPHB4):c.1752A>G (p.Gly584=) rs314359 0.56302
NM_004444.5(EPHB4):c.1890C>T (p.Cys630=) rs2230585 0.32365
NM_004444.5(EPHB4):c.546T>C (p.Gly182=) rs56173078 0.09290
NM_004444.5(EPHB4):c.1422+3A>G rs3857809 0.08906
NM_004444.5(EPHB4):c.489G>A (p.Thr163=) rs61130921 0.02793
NM_004444.5(EPHB4):c.1743T>C (p.Tyr581=) rs116240595 0.00915
NM_004444.5(EPHB4):c.2679-18C>T rs199981207 0.00247
NM_004444.5(EPHB4):c.1144G>A (p.Gly382Ser) rs114926839 0.00239
NM_004444.5(EPHB4):c.1593C>T (p.Ser531=) rs55682161 0.00155
NM_004444.5(EPHB4):c.691C>T (p.Pro231Ser) rs147563837 0.00077
NM_004444.5(EPHB4):c.1384G>A (p.Gly462Arg) rs146674844 0.00036
NM_004444.5(EPHB4):c.1017G>T (p.Leu339=) rs55867842 0.00034
NM_004444.5(EPHB4):c.1692-8G>A rs372971671 0.00016
NM_004444.5(EPHB4):c.246C>T (p.Gly82=) rs373788065 0.00012
NM_004444.5(EPHB4):c.420G>A (p.Thr140=) rs760088877 0.00011
NM_004444.5(EPHB4):c.965-18C>T rs370366072 0.00011
NM_004444.5(EPHB4):c.2834+17G>A rs374898029 0.00002
NM_004444.5(EPHB4):c.1330C>T (p.Arg444Trp) rs370505170 0.00001
NM_004444.5(EPHB4):c.1549C>A (p.Pro517Thr) rs1457869824 0.00001
NM_004444.5(EPHB4):c.1180C>T (p.Arg394Ter) rs994651018
NM_004444.5(EPHB4):c.1314T>C (p.Ser438=) rs144173
NM_004444.5(EPHB4):c.1400A>G (p.Tyr467Cys) rs1584662598
NM_004444.5(EPHB4):c.1423-6G>A rs762817852
NM_004444.5(EPHB4):c.1848_1849delinsT (p.Lys616fs) rs2116432568
NM_004444.5(EPHB4):c.2102T>C (p.Leu701Pro) rs1812966939
NM_004444.5(EPHB4):c.2949G>T (p.Pro983=) rs112803997
NM_004444.5(EPHB4):c.605_606del (p.Val202fs) rs1813260006
NM_004444.5(EPHB4):c.755G>A (p.Gly252Asp)
NM_004444.5(EPHB4):c.805C>T (p.Arg269Ter) rs1049858988
NM_004444.5(EPHB4):c.96G>T (p.Trp32Cys) rs1813316337

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