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Table. 1.

Table. 1.

Detected variants of the NF1 gene

Pathogenic/LP VUS Total



Patient Variant Patient Variant Patient Variant
Truncating 177 (61.2%) 135 (62.2%) 0 (0%) 0 (0%) 177 (58.4%) 135 (58.4%)
Splicing 42 (14.5%) 39 (18.0%) 0 (0%) 0 (0%) 42 (13.9%) 39 (16.9%)
Missense 34 (11.8%) 26 (12.0%) 10 (71.4%) 10 (71.4%) 44 (14.5%) 36 (15.6%)
Large del 25 (8.7%) 8 (3.7%) 0 (0%) 0 (0%) 25 (8.3%) 8 (3.5%)
In-frame del 7 (2.4%) 5 (2.3%) 0 (0%) 0 (0%) 7 (2.3%) 5 (2.2%)
In-frame dup 0 (0%) 0 (0%) 1 (7.1%) 1 (7.1%) 1 (0.3%) 1 (0.4%)
Aberrant transcript 4 (1.4%) 4 (1.8%) 2 (14.3%) 2 (14.3%) 6 (2.0%) 6 (2.6%)
Synonymous 0 (0%) 0 (0%) 1 (7.1%) 1 (7.1%) 1 (0.3%) 1 (0.4%)
Total 289 217 14 14 303 231

Abbreviations: LP, likely pathogenic; VUS, variant of unknown significance; del, deletion; dup, duplication.

Lab Med Online 2021;11:17~24 https://doi.org/10.47429/lmo.2021.11.1.17
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