Table 4.

Connexin 29 (GJC3) gene variants.

							* Number of Alleles
							Ghana	Taiwan	India	China
Protein Change	Nucleotide Change	rs Number	Intervar	Varsome	ClinVar	Verdict	[21,47]	[40]	[47]	[48]
p.I190N	c.569T > A	rs121908693	Uncertain Significance	Uncertain Significance	-	Uncertain Significance			1/246
p.R15G	c.43C > G	-	Uncertain Significance	Uncertain Significance	-	Uncertain Significance				1/506
p.W77S	c.230G > C	-	Uncertain Significance	Uncertain Significance	-	Uncertain Significance				1/506
p.L17S	c.525T > G	rs752804324	Likely benign	Likely benign		Likely benign				2/506
-	c.781 + 62G > A	rs116853822	-	Likely Benign	-	Likely Benign		10/520		8/506
p.M1R	c.2T > G	-	Uncertain Significance	Uncertain Significance	-	Uncertain Significance		3/520		3/506
p.E269D	c.807A > T	rs763649019	Uncertain Significance	Likely Benign	Uncertain Significance	Uncertain Significance		1/520
p.P164S	c.490C > T	rs73405465	Benign	Benign	-	Benign	53/400

* The numerators in this column represent the number of mutated alleles, and the denominators the total number of screened alleles, InterVar, VarSome, and ClinVar are databases to assess the clinical significance of the variants.