ClinVar Miner

List of variants reported as likely pathogenic for Capillary malformation-arteriovenous malformation 2 by Molecular Genetics, Royal Melbourne Hospital

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Total variants: 3
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HGVS dbSNP gnomAD frequency
NM_004444.5(EPHB4):c.1153dup (p.Asp385fs) rs761905713
NM_004444.5(EPHB4):c.2484+1G>A rs927772349
NM_004444.5(EPHB4):c.410A>T (p.Lys137Met) rs1813296662

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