ClinVar Miner

List of variants reported as benign for Capillary malformation-arteriovenous malformation 2 by Genome-Nilou Lab

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Total variants: 5
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HGVS dbSNP gnomAD frequency
NM_004444.5(EPHB4):c.1752A>G (p.Gly584=) rs314359 0.56302
NM_004444.5(EPHB4):c.1890C>T (p.Cys630=) rs2230585 0.34055
NM_004444.5(EPHB4):c.1422+3A>G rs3857809 0.08906
NM_004444.5(EPHB4):c.1314T>C (p.Ser438=) rs144173
NM_004444.5(EPHB4):c.52+14C>G rs2304374

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