Table 4 Population frequency of Predicted pathogenic MMR variants from gnomAD v.2.1.1 assessed clinically and according to ACMG criteria in ClinVar, LOVD or InSiGHT.
Gene | ClinVar | LOVD | InSiGHT | |||
|---|---|---|---|---|---|---|
Total variants | Frequency | Total variants | Frequency | Total variants | Frequency | |
MLH1 | 31 variants in 120 people | 120/121,055 = one in 1009 people | 23 variants in 46 people | 46/121,055 = one in 2632 people | 15 variants in 20 people | 20/121,055 = one in 6053 people |
MSH2 | 19 variants in 25 people | 25/121,559 = one in 4863 people | 39 variants in 187 people | 187/121,559 = one in 651 people | 10 variants in 14 people | 14/121,559 = one in 8683 people |
MSH6 | 82 variants in 140 people | 140/118,727 = one in 849 people | 45 variants in 89 people | 89/118,727 = one in 1335 people | 36 variants in 77 people | 77/118,727 = one in 1542 people |
PMS2 | 87 variants in 308 people | 308/118,189 = one in 384 people | 37 variants in 287 people | 287/118,189 = one in 412 people | 14 variants in 91 people | 91/118,189 = one in 1299 people |
Total | 219 variants in 593 people | 593/119,883 = one in 203 people (p < 0.0001) | 144 variants in 609 people | 609/119,836 = one in 197 people (p < 0.0001) | 75 variants in 202 people | 202/119,836 = one in 594 people (p < 0.0001) |
