ClinVar Miner

List of variants in gene EPHB4 reported as likely 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.2512C>T (p.Arg838Trp) rs764827256 0.00001
NM_004444.5(EPHB4):c.1153dup (p.Asp385fs)
NM_004444.5(EPHB4):c.1541G>A (p.Gly514Asp)
NM_004444.5(EPHB4):c.1861_1864dup (p.Gly622fs)
NM_004444.5(EPHB4):c.1950G>T (p.Lys650Asn) rs1584658113
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.2233A>G (p.Asn745Asp) rs1584654433
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.2420G>A (p.Gly807Glu)
NM_004444.5(EPHB4):c.2484+1G>A rs927772349
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.2599T>C (p.Phe867Leu) rs1584652949
NM_004444.5(EPHB4):c.410A>T (p.Lys137Met)

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