ClinVar Miner

List of variants reported as benign for LEOPARD syndrome 2 by Illumina Laboratory Services, Illumina

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Total variants: 24
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HGVS dbSNP gnomAD frequency
NM_002880.4(RAF1):c.*348T>C rs5746247 0.01554
NM_002880.4(RAF1):c.-281C>G rs61761285 0.01090
NM_002880.4(RAF1):c.1669-13T>C rs147475396 0.00819
NM_002880.4(RAF1):c.1941C>T (p.Val647=) rs3730297 0.00729
NM_002880.4(RAF1):c.*495C>T rs12808 0.00354
NM_002880.4(RAF1):c.*190G>A rs528863135 0.00335
NM_002880.4(RAF1):c.*160C>T rs5746246 0.00295
NM_002880.4(RAF1):c.*110T>C rs550188508 0.00112
NM_002880.4(RAF1):c.1830A>G (p.Gln610=) rs141791080 0.00088
NM_002880.4(RAF1):c.321-14T>A rs3730270 0.00032
NM_002880.4(RAF1):c.909A>C (p.Thr303=) rs5746219 0.00025
NM_002880.4(RAF1):c.125C>T (p.Ala42Val) rs11549992 0.00021
NM_002880.4(RAF1):c.119G>A (p.Arg40His) rs192632236 0.00016
NM_002880.4(RAF1):c.122G>A (p.Arg41Gln) rs145611571 0.00016
NM_002880.4(RAF1):c.*556G>A rs187286358 0.00014
NM_002880.4(RAF1):c.680+6T>C rs371846795 0.00014
NM_002880.4(RAF1):c.*404G>A rs150460686 0.00013
NM_002880.4(RAF1):c.1721A>G (p.Tyr574Cys) rs370242565 0.00012
NM_002880.4(RAF1):c.1914G>A (p.Thr638=) rs144876026 0.00001
NM_002880.4(RAF1):c.*266C>T rs1051208
NM_002880.4(RAF1):c.*606A>G rs556460176
NM_002880.4(RAF1):c.*83C>T rs2229757
NM_002880.4(RAF1):c.-267G>A rs116247741
NM_002880.4(RAF1):c.1629G>C (p.Thr543=) rs5746244

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