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Table 3 Distribution of additional rare variants and most interesting variants per patient group (Group K: Patients with known pathogenic mutation (n = 64); Group U: Patients with unknown cause (n = 173); all patients (n = 237))

From: Diagnostic yield and clinical utility of a comprehensive gene panel for hereditary tumor syndromes

  No. of variants (variants per patient) No. of patients (%) p-value
Group K Group U All patients Group K Group U All patients
All additional variants 58 (0.9) 134 (0.8) 192 (0.8) 35 (55%) 90 (52%) 125 (53%) 0.8
- Truncating variants 8 (0.1) 20 (0.1) 28 (0.1) 7 (11%) 19 (11%) 26 (11%) 1.0
- Missense variants 44 (0.7) 101 (0.6) 145 (0.6) 31 (48%) 74 (43%) 105 (44%) 0.5
- Othersa 6 (0.1) 13 (0.1) 19 (0.1) 6 (9%) 13 (8%) 19 (8%) 0.6
Most interesting variants 15 (0.2) 36 (0.2) 51 (0.2) 14 (22%) 30 (17%) 44 (19%) 0.5
  1. a Potential exonic splice variants; start-loss and stop-loss variants