ClinVar Miner

List of variants reported as uncertain significance for Noonan-like syndrome by Illumina Laboratory Services, Illumina

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Total variants: 21
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HGVS dbSNP gnomAD frequency
NM_005188.4(CBL):c.2414_2416dup (p.Leu805_Asp806insVal) rs777761446 0.00001
NM_005188.3(CBL):c.-126_-125insTGG rs878976124
NM_005188.3(CBL):c.-126_-125insTGGCGG rs758396206
NM_005188.3(CBL):c.-126_-125insTGGCGGCGGCGGCGGCGG rs758396206
NM_005188.3(CBL):c.-127_-125GGC[12] rs57028199
NM_005188.3(CBL):c.-127_-125GGC[13] rs57028199
NM_005188.3(CBL):c.-127_-125GGC[14] rs57028199
NM_005188.3(CBL):c.-127_-125GGC[15] rs57028199
NM_005188.3(CBL):c.-127_-125GGC[8] rs57028199
NM_005188.4(CBL):c.*1732del rs549459958
NM_005188.4(CBL):c.*2129dup rs886047782
NM_005188.4(CBL):c.*2762dup rs886047785
NM_005188.4(CBL):c.*3106del rs886047787
NM_005188.4(CBL):c.*4863dup rs572265582
NM_005188.4(CBL):c.*559_*560insCAA rs3833768
NM_005188.4(CBL):c.*5771T>A rs886047800
NM_005188.4(CBL):c.*7170_*7173del rs112360309
NM_005188.4(CBL):c.*7173del rs112360309
NM_005188.4(CBL):c.*8164_*8167del rs886047814
NM_005188.4(CBL):c.-125_-116delinsT rs886047763
NM_005188.4(CBL):c.686A>T (p.Asp229Val) rs1414848678

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