ClinVar Miner

List of variants in gene EPHB4 studied for Capillary malformation-arteriovenous malformation 2

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Total variants: 51
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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 0.34055
NM_004444.5(EPHB4):c.1422+3A>G rs3857809 0.08906
NM_004444.5(EPHB4):c.2365C>T (p.Pro789Ser) rs1417508111 0.00003
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.2512C>T (p.Arg838Trp) rs764827256 0.00001
NM_004444.5(EPHB4):c.1093C>T (p.Arg365Ter)
NM_004444.5(EPHB4):c.1123G>T (p.Gly375Ter) rs1484547615
NM_004444.5(EPHB4):c.1153dup (p.Asp385fs)
NM_004444.5(EPHB4):c.1190G>A (p.Arg397His) rs538766032
NM_004444.5(EPHB4):c.1314T>C (p.Ser438=) rs144173
NM_004444.5(EPHB4):c.1362G>C (p.Trp454Cys)
NM_004444.5(EPHB4):c.1406T>G (p.Val469Gly) rs1584662591
NM_004444.5(EPHB4):c.1541G>A (p.Gly514Asp)
NM_004444.5(EPHB4):c.175G>A (p.Glu59Lys) rs1584667224
NM_004444.5(EPHB4):c.1861_1864dup (p.Gly622fs)
NM_004444.5(EPHB4):c.1950G>T (p.Lys650Asn) rs1584658113
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.2044G>A (p.Val682Met)
NM_004444.5(EPHB4):c.2102T>G (p.Leu701Arg) rs1812966939
NM_004444.5(EPHB4):c.2164C>T (p.Arg722Trp)
NM_004444.5(EPHB4):c.2215C>T (p.Arg739Ter)
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)
NM_004444.5(EPHB4):c.2366C>G (p.Pro789Arg) rs753075600
NM_004444.5(EPHB4):c.2405A>G (p.Asp802Gly) rs776410552
NM_004444.5(EPHB4):c.2418C>G (p.Tyr806Ter) rs377702127
NM_004444.5(EPHB4):c.2419G>A (p.Gly807Arg) rs1330628156
NM_004444.5(EPHB4):c.2420G>A (p.Gly807Glu)
NM_004444.5(EPHB4):c.2458C>A (p.Pro820Thr) rs1584653653
NM_004444.5(EPHB4):c.2459C>T (p.Pro820Leu) rs1584653650
NM_004444.5(EPHB4):c.2484+1G>A rs927772349
NM_004444.5(EPHB4):c.2484+1G>T rs927772349
NM_004444.5(EPHB4):c.2484+2dup rs1584653620
NM_004444.5(EPHB4):c.2533T>C (p.Cys845Arg) rs1584653054
NM_004444.5(EPHB4):c.2567G>A (p.Cys856Tyr) rs1584653005
NM_004444.5(EPHB4):c.2590C>T (p.Arg864Trp) rs769965440
NM_004444.5(EPHB4):c.2599T>C (p.Phe867Leu) rs1584652949
NM_004444.5(EPHB4):c.2605dup (p.Gln869fs)
NM_004444.5(EPHB4):c.2609T>A (p.Val870Glu) rs1584652920
NM_004444.5(EPHB4):c.2621T>C (p.Leu874Pro) rs1584652900
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)
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.802T>C (p.Cys268Arg) rs201816920

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