ClinVar Miner

List of variants in gene EPHB4 studied for cardiovascular disorder

Included ClinVar conditions (1426):
Minimum submission review status: Collection method:
Minimum conflict level:
Gene type:
ClinVar version:
Total variants: 58
Download table as spreadsheet
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.1422+3A>G rs3857809 0.08906
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.1190G>A (p.Arg397His) rs538766032 0.00003
NM_004444.5(EPHB4):c.1093C>T (p.Arg365Ter) rs1279971868 0.00001
NM_004444.5(EPHB4):c.1405G>A (p.Val469Ile) rs775083333 0.00001
NM_004444.5(EPHB4):c.1546G>A (p.Gly516Arg) rs776305185 0.00001
NM_004444.5(EPHB4):c.2173G>A (p.Ala725Thr) rs1159930961 0.00001
NM_004444.5(EPHB4):c.1109G>T (p.Cys370Phe)
NM_004444.5(EPHB4):c.1123G>T (p.Gly375Ter) rs1484547615
NM_004444.5(EPHB4):c.1124dup (p.Asp376fs) rs2116450530
NM_004444.5(EPHB4):c.1153dup (p.Asp385fs) rs761905713
NM_004444.5(EPHB4):c.121C>T (p.Gln41Ter) rs2116462820
NM_004444.5(EPHB4):c.1295_1296del (p.Glu432fs) rs2116449991
NM_004444.5(EPHB4):c.1314T>C (p.Ser438=) rs144173
NM_004444.5(EPHB4):c.1362G>C (p.Trp454Cys) rs2116447376
NM_004444.5(EPHB4):c.1402G>A (p.Glu468Lys)
NM_004444.5(EPHB4):c.1406T>G (p.Val469Gly) rs1584662591
NM_004444.5(EPHB4):c.1423-6G>A rs762817852
NM_004444.5(EPHB4):c.1526C>G (p.Ala509Gly) rs146937374
NM_004444.5(EPHB4):c.1541G>A (p.Gly514Asp) rs2116443777
NM_004444.5(EPHB4):c.175G>A (p.Glu59Lys) rs1584667224
NM_004444.5(EPHB4):c.1788T>A (p.Tyr596Ter)
NM_004444.5(EPHB4):c.1861_1864dup (p.Gly622fs) rs2116432544
NM_004444.5(EPHB4):c.1950G>T (p.Lys650Asn) rs1584658113
NM_004444.5(EPHB4):c.1960A>T (p.Thr654Ser)
NM_004444.5(EPHB4):c.1966C>T (p.Arg656Trp) rs745584371
NM_004444.5(EPHB4):c.1990G>A (p.Glu664Lys) rs1562969219
NM_004444.5(EPHB4):c.2011T>C (p.Phe671Leu) rs2116431707
NM_004444.5(EPHB4):c.2044G>A (p.Val682Met) rs2116431583
NM_004444.5(EPHB4):c.2102T>G (p.Leu701Arg) rs1812966939
NM_004444.5(EPHB4):c.2164C>T (p.Arg722Trp) rs927472085
NM_004444.5(EPHB4):c.216G>A (p.Trp72Ter)
NM_004444.5(EPHB4):c.2197G>T (p.Glu733Ter)
NM_004444.5(EPHB4):c.2213A>G (p.His738Arg)
NM_004444.5(EPHB4):c.2215C>T (p.Arg739Ter)
NM_004444.5(EPHB4):c.2216G>A (p.Arg739Gln) rs1057519263
NM_004444.5(EPHB4):c.221G>C (p.Arg74Pro) rs61735971
NM_004444.5(EPHB4):c.2233A>G (p.Asn745Asp) rs1584654433
NM_004444.5(EPHB4):c.2287C>T (p.Arg763Ter) rs1331371272
NM_004444.5(EPHB4):c.2334+1G>C rs1562967463
NM_004444.5(EPHB4):c.250G>A (p.Val84Ile)
NM_004444.5(EPHB4):c.282G>T (p.Met94Ile)
NM_004444.5(EPHB4):c.2860_2861del (p.Leu954fs) rs1584651110
NM_004444.5(EPHB4):c.319T>C (p.Cys107Arg) rs1562974383
NM_004444.5(EPHB4):c.389G>A (p.Trp130Ter) rs1584666961
NM_004444.5(EPHB4):c.410A>T (p.Lys137Met) rs1813296662
NM_004444.5(EPHB4):c.560T>C (p.Leu187Pro) rs1584666053
NM_004444.5(EPHB4):c.570dup (p.His191fs) rs1562973614
NM_004444.5(EPHB4):c.632_633del (p.Val211fs) rs1562973541
NM_004444.5(EPHB4):c.732dup (p.Trp245fs)
NM_004444.5(EPHB4):c.802T>C (p.Cys268Arg) rs201816920
NM_004444.5(EPHB4):c.853T>C (p.Cys285Arg)
NM_004444.5(EPHB4):c.964+3A>T
NM_004444.5(EPHB4):c.980C>T (p.Pro327Leu) rs1057515420

The information on this website is not intended for direct diagnostic use or medical decision-making without review by a genetics professional. Individuals should not change their health behavior solely on the basis of information contained on this website. Neither the University of Utah nor the National Institutes of Health independently verfies the submitted information. If you have questions about the information contained on this website, please see a health care professional.