Table 3. Types of Mutations Observed in TSC2 (n=1234)

Mutation TypePercent of TSC2 Mutations
Small deletions and insertions~29%
Missense~28.4%
Nonsense~22%
Splice~12.8%-15%
Large deletions and rearrangements~7.8%

Estimated percentages from LOVD

From: Tuberous Sclerosis Complex

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Pagon RA, Adam MP, Ardinger HH, et al., editors.
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