ClinVar Miner

List of variants reported as not provided for Hennekam lymphangiectasia-lymphedema syndrome

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Total variants: 5
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HGVS dbSNP
NM_133459.4(CCBE1):c.223T>A (p.Cys75Ser) rs121908250
NM_133459.4(CCBE1):c.305G>C (p.Cys102Ser) rs121908251
NM_133459.4(CCBE1):c.472C>T (p.Arg158Cys) rs121908253
NM_133459.4(CCBE1):c.520T>C (p.Cys174Arg) rs121908254
NM_133459.4(CCBE1):c.979G>C (p.Gly327Arg) rs121908252

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