List of variants reported as uncertain significance for capillary malformation by SIB Swiss Institute of Bioinformatics

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Total variants: 17

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HGVS	dbSNP	gnomAD frequency
NM_002890.3(RASA1):c.1583A>G (p.Tyr528Cys)	rs145752649	0.00043
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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