ClinVar Miner

List of variants reported as likely pathogenic for Hereditary lymphedema type I

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Total variants: 7
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HGVS dbSNP gnomAD frequency
NM_004444.5(EPHB4):c.1423-6G>A rs762817852
NM_182925.5(FLT4):c.2717_2734dup (p.Asn911_Leu912insHisLeuAsnValValAsn) rs2480886920
NM_182925.5(FLT4):c.2741G>A (p.Gly914Glu)
NM_182925.5(FLT4):c.3121C>T (p.Arg1041Trp) rs1451816005
NM_182925.5(FLT4):c.3122G>A (p.Arg1041Gln) rs121909650
NM_182925.5(FLT4):c.3410C>T (p.Pro1137Leu) rs1762335528
NM_182925.5(FLT4):c.3821A>T (p.Asp1274Val) rs1761973773

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