ClinVar Miner

List of variants reported as benign for Hennekam lymphangiectasia-lymphedema syndrome 1

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Total variants: 52
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HGVS dbSNP gnomAD frequency
NM_133459.4(CCBE1):c.401-29T>C rs4940876 0.95824
NM_133459.4(CCBE1):c.*3805T>C rs4940462 0.82960
NM_133459.4(CCBE1):c.*4749C>T rs1048006 0.82939
NM_133459.4(CCBE1):c.*4398C>A rs6567083 0.82900
NM_133459.4(CCBE1):c.*2372C>T rs9959080 0.82464
NM_133459.4(CCBE1):c.*2242T>C rs9948686 0.82319
NM_133459.4(CCBE1):c.*4796G>A rs1048008 0.81742
NM_133459.4(CCBE1):c.*4945C>A rs1129748 0.78704
NM_133459.4(CCBE1):c.775+12A>G rs1893788 0.59779
NM_133459.4(CCBE1):c.*2361G>A rs9959752 0.52467
NM_133459.4(CCBE1):c.266-30T>C rs632899 0.44900
NM_133459.4(CCBE1):c.266-104C>T rs650033 0.43621
NM_133459.4(CCBE1):c.266-63G>T rs663452 0.42927
NM_133459.4(CCBE1):c.*4504G>C rs7230906 0.38762
NM_133459.4(CCBE1):c.*2730A>G rs1975499 0.38748
NM_133459.4(CCBE1):c.776-164G>A rs11152148 0.38292
NM_133459.4(CCBE1):c.*814T>G rs9954602 0.27783
NM_133459.4(CCBE1):c.*3780A>T rs12957684 0.23405
NM_133459.4(CCBE1):c.*2020C>T rs113599524 0.15943
NM_133459.4(CCBE1):c.*4788T>C rs77728352 0.04498
NM_133459.4(CCBE1):c.*3162T>C rs78990130 0.02874
NM_133459.4(CCBE1):c.*2825A>G rs116611266 0.02587
NM_133459.4(CCBE1):c.988-10A>G rs115490148 0.02376
NM_133459.4(CCBE1):c.*2673G>A rs115205666 0.02212
NM_133459.4(CCBE1):c.123C>A (p.Asp41Glu) rs80008675 0.01868
NM_133459.4(CCBE1):c.*1040C>T rs78905013 0.01557
NM_133459.4(CCBE1):c.*2758C>T rs114107592 0.01425
NM_133459.4(CCBE1):c.*3036C>G rs75031007 0.01254
NM_133459.4(CCBE1):c.837C>T (p.Pro279=) rs61745250 0.01198
NM_133459.4(CCBE1):c.*1697G>C rs59131196 0.01117
NM_133459.4(CCBE1):c.*2833C>A rs73450357 0.01086
NM_133459.4(CCBE1):c.*14C>T rs72958116 0.00900
NM_133459.4(CCBE1):c.*2978T>A rs117999156 0.00814
NM_133459.4(CCBE1):c.*3533C>A rs112059725 0.00563
NM_133459.4(CCBE1):c.*154G>A rs73963210 0.00515
NM_133459.4(CCBE1):c.*1969A>G rs144921615 0.00467
NM_133459.4(CCBE1):c.*3777A>T rs184237348 0.00413
NM_133459.4(CCBE1):c.*4846G>A rs141622451 0.00130
NM_133459.4(CCBE1):c.499C>T (p.Arg167Trp) rs116675104 0.00064
NM_133459.4(CCBE1):c.156C>T (p.Ile52=) rs2288598 0.00035
NM_133459.4(CCBE1):c.*2787T>C rs538634534 0.00008
NM_133459.4(CCBE1):c.*4180A>G rs556156318 0.00006
NM_133459.4(CCBE1):c.*616A>G rs532612240 0.00001
NM_133459.4(CCBE1):c.*1258C>G rs571761684
NM_133459.4(CCBE1):c.*2013_*2016del rs373652074
NM_133459.4(CCBE1):c.*2227G>A rs9959855
NM_133459.4(CCBE1):c.*2298dup rs35448271
NM_133459.4(CCBE1):c.*2638del rs5825337
NM_133459.4(CCBE1):c.*2952dup rs11424706
NM_133459.4(CCBE1):c.*3475G>C rs17769805
NM_133459.4(CCBE1):c.*4426del rs66482821
NM_133459.4(CCBE1):c.775+82A>G rs3809990

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