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. 2023 Aug 20;14(8):1656. doi: 10.3390/genes14081656

Table 1.

Genetic variants in the CASK protein on ClinVar database.

Mutations Pathogenic Likely Pathogenic Benign 1 Uncertain Significance 2
Frameshift 30 6 0 1
Missense * 11 20 14 180
Nonsense 40 3 0 0

* Statistical differences were observed among the types of mutation (Chi-square test, p < 0.05). 1 Benign includes “likely benign” cases. 2 Cases of conflicting interpretations were included.