ClinVar Miner

List of variants in gene EPHB4 reported as pathogenic for capillary malformation

Included ClinVar conditions (13):
Minimum submission review status: Collection method:
Minimum conflict level:
Gene type:
ClinVar version:
Total variants: 12
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HGVS dbSNP
NM_004444.5(EPHB4):c.1123G>T (p.Gly375Ter) rs1484547615
NM_004444.5(EPHB4):c.1990G>A (p.Glu664Lys) rs1562969219
NM_004444.5(EPHB4):c.2405A>G (p.Asp802Gly) rs776410552
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.2590C>T (p.Arg864Trp) rs769965440
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.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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