ClinVar Miner

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

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Total variants: 16
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HGVS dbSNP gnomAD frequency
NM_004444.5(EPHB4):c.2365C>T (p.Pro789Ser) rs1417508111 0.00003
NM_004444.5(EPHB4):c.1546G>A (p.Gly516Arg) rs776305185 0.00001
NM_004444.5(EPHB4):c.2173G>A (p.Ala725Thr) rs1159930961 0.00001
NM_004444.5(EPHB4):c.1406T>G (p.Val469Gly) rs1584662591
NM_004444.5(EPHB4):c.175G>A (p.Glu59Lys) rs1584667224
NM_004444.5(EPHB4):c.1966C>T (p.Arg656Trp) rs745584371
NM_004444.5(EPHB4):c.221G>C (p.Arg74Pro) rs61735971
NM_004444.5(EPHB4):c.2366C>G (p.Pro789Arg) rs753075600
NM_004444.5(EPHB4):c.2419G>A (p.Gly807Arg) rs1330628156
NM_004444.5(EPHB4):c.2458C>A (p.Pro820Thr) rs1584653653
NM_004444.5(EPHB4):c.2459C>T (p.Pro820Leu) rs1584653650
NM_004444.5(EPHB4):c.2609T>A (p.Val870Glu) rs1584652920
NM_004444.5(EPHB4):c.2621T>C (p.Leu874Pro) rs1584652900
NM_004444.5(EPHB4):c.319T>C (p.Cys107Arg) rs1562974383
NM_004444.5(EPHB4):c.560T>C (p.Leu187Pro) rs1584666053
NM_004444.5(EPHB4):c.802T>C (p.Cys268Arg) rs201816920

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