ClinVar Miner

List of variants studied for Capillary malformation-arteriovenous malformation 2 by Molecular Diagnostics Laboratory, M Health Fairview: University of Minnesota

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Total variants: 3
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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.1861_1864dup (p.Gly622fs)
NM_004444.5(EPHB4):c.2102T>G (p.Leu701Arg) rs1812966939

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