List of variants reported as likely pathogenic for Capillary malformation-arteriovenous malformation 2 by SIB Swiss Institute of Bioinformatics

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Total variants: 9

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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.1950G>T (p.Lys650Asn)	rs1584658113
NM_004444.5(EPHB4):c.1990G>A (p.Glu664Lys)	rs1562969219
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.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

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