ClinVar Miner

List of variants reported as pathogenic for Capillary malformation-arteriovenous malformation 2

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Total variants: 17
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HGVS dbSNP gnomAD frequency
NM_004444.5(EPHB4):c.1093C>T (p.Arg365Ter)
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.2215C>T (p.Arg739Ter)
NM_004444.5(EPHB4):c.2287C>T (p.Arg763Ter)
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.2605dup (p.Gln869fs)
NM_004444.5(EPHB4):c.319T>C (p.Cys107Arg) rs1562974383
NM_004444.5(EPHB4):c.33del (p.Leu12fs) rs1562976493
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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