TABLE 3.

278 GJB2 variants and genotypes.

Variants	Type	Cases (frequency, %)
c.[235delC]	Heterozygote	111 (39.93)
c.[109G > A]	Heterozygote	109 (39.21)
c.[299_300delAT]	Heterozygote	22 (7.91)
c.[187G > T]	Heterozygote	6 (2.16)
c.[109G > A] + [109G > A]	Homozygote	5 (1.80)
c.[139G > T]	Heterozygote	4 (1.44)
c.[257C > G]	Heterozygote	3 (1.08)
c.[508_511dupAACG]	Heterozygote	3 (1.08)
c.[235delC] + [235delC]	Homozygote	2 (0.72)
c.[176_191delGCAAGAACGTGTG]	Heterozygote	2 (0.72)
c.[9G > A]	Heterozygote	1 (0.36)
c.[35dupG]	Heterozygote	1 (0.36)
c.[35G > A]	Heterozygote	1 (0.36)
c.[109G > A] + [299_300delAT]	Two variants identified, phase unknown	1 (0.36)
c.[134G > A]	Heterozygote	1 (0.36
c.[176_191delGCTGCAAGAACGTG]	Heterozygote	1 (0.36)
c.[176_191delGCTGCAAGAACG TGTG]	Heterozygote	1 (0.36)
c.[230G > A]	Heterozygote	1 (0.36)
c.[235delC] + [257C > G]	Two variants identified, phase unknown	1 (0.36)
c.[416G > A]	Heterozygote	1 (0.36)
c.[427C > T]	Heterozygote	1 (0.36)

The bold means the pathogenic deafness-associated variants.