. 2020 Oct 28;10(11):258. doi: 10.3390/life10110258

Table 5.

Connexin 43 (GJA1) gene variants.

Country/Territory	* Number of Alleles	Protein	Nucleotide Change	rs Number	Clinical Significance				Reference
Country/Territory	* Number of Alleles	Protein	Nucleotide Change	rs Number	Intervar	Varsome	ClinVar	Verdict	Reference
Taiwan	1/520	p.S69P	c.205T > C	-	Likely pathogenic	Likely pathogenic	-	pathogenic	[23]
Taiwan	16/520	-	c.932delC	-	-	-	-	-	[23]
Taiwan	2/520	-	c.976C > T	-	-	-	-	-	[23]
Taiwan	1/506	p.L181F	c.543G > C	-	Likely pathogenic	Likely pathogenic	-	pathogenic	[40]
Cameroon	2/134	-	c.-16-51A > G	rs189167598	-	Benign	-	Benign	[49]
South Africa	1/46	p.N63N	c.189T > C	rs139688042	Likely benign	Uncertain Significance	-	Conflicting Interpretations	[49]
South Africa	1/46	p.N122N	c.366T > C	-	Likely benign	Uncertain Significance	-	Conflicting Interpretations	[49]
Cameroon	11/134	p.R239R	c.717G > A	rs57946868	Benign	Uncertain Significance	-	Conflicting Interpretations	[49]
South Africa	2/46	p.R239R	c.717G > A	rs57946868	Benign	Uncertain Significance	-	Conflicting Interpretations	[49]
South Africa	1/46	p.A253V	c.758C > T	rs17653265	Benign	Benign	Benign	Benign	[49]
USA	6/52	p.L11Y	c.31–32 delCTinsTA	-	-	Likely pathogenic	-	Likely pathogenic	[50]
USA	2/20	p.V24A	c.71T > C	-	Likely pathogenic	Likely pathogenic	-	pathogenic	[50]

* 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.