Table 1.
Pathogenic variants identified in GJB2.
| Pathogenic Variant | Heterozygous | Homozygous | Total of Families | Frequency * |
|---|---|---|---|---|
| c.427C>T; p.(Arg143Trp) | 19 | 1 | 20 | 22.6% |
| c.35delG; p.(Gly12fs) | 10 | 3 | 13 | 17.2% |
| c.94C>A; p.(Arg32Ser) | 9 | 1 | 10 | 11.8% |
| c.59T>C; p.(Ile20Thr) | 8 | 1 | 9 | 10.8% |
| c.35G>T; p.(Gly12Val) | 3 | 3 | 6 | 9.7% |
| c.283G>A; p.(Val95Met) | 6 | 0 | 6 | 6.5% |
| c.645delT; p.(Arg216fs) | 6 | 0 | 6 | 6.5% |
| c.19C>T; p.(Gln7Ter) | 5 | 0 | 5 | 5.4% |
| c.167delT; p.(Leu56fs) | 3 | 0 | 3 | 3.2% |
| c.109G>A; p.(Val37Ile) | 2 | 0 | 2 | 2.2% |
| c.29T>C; p.(Leu10Pro) | 1 | 0 | 1 | 1.1% |
| c.235delC; p.(Leu79fs) | 1 | 0 | 1 | 1.1% |
| c.617A>G; p.(Asn206Ser) | 1 | 0 | 1 | 1.1% |
| c.232dupG; p.(Ala78fs) | 1 | 0 | 1 | 1.1% |
* Allele frequencies calculated among individuals with pathogenic and likely pathogenic variants.