List of variants in gene EPHB4 studied for Lymphatic malformation 7

Minimum submission review status:		Collection method:
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Gene type: Distinguish antisense genes from sense genes
		ClinVar version:

Total variants: 13

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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	0.32365
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.2213A>G (p.His738Arg)
NM_004444.5(EPHB4):c.2216G>A (p.Arg739Gln)	rs1057519263
NM_004444.5(EPHB4):c.2273A>G (p.Asp758Gly)
NM_004444.5(EPHB4):c.2334+1G>C	rs1562967463
NM_004444.5(EPHB4):c.2785G>A (p.Ala929Thr)
NM_004444.5(EPHB4):c.2860_2861del (p.Leu954fs)	rs1584651110
NM_004444.5(EPHB4):c.53-2A>T
NM_004444.5(EPHB4):c.839C>G (p.Ser280Ter)	rs758961867
NM_004444.5(EPHB4):c.896C>T (p.Ser299Leu)

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