ClinVar Miner

List of variants reported as pathogenic for Lymphatic malformation 7 by OMIM

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Total variants: 3

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HGVS	dbSNP	gnomAD frequency
NM_004444.5(EPHB4):c.2216G>A (p.Arg739Gln)	rs1057519263
NM_004444.5(EPHB4):c.2334+1G>C	rs1562967463
NM_004444.5(EPHB4):c.2345T>G (p.Ile782Ser)	rs1057519264

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