Table 2.

Global distribution of connexin 31 (GJB3) gene variants.

Country/Territory	Number of Alleles	Protein	Nucleotide Change	rs Number	Clinical Significance				Reference
					Intervar	Varsome	ClinVar	Verdit
Germany	2/376	p.K56Q	c.166 A > C	rs746219527	Uncertain Significance	Likely Benign	Uncertain Significance	Uncertain Significance	[27]
Germany	1/376	p.R101Q	c.302G > A	rs765605645	Uncertain Significance	Likely Benign	-	Conflicting Interpretations	[27]
Germany	1/376	p.R106H	c.317 G > A	rs369979083	Uncertain Significance	Uncertain Significance	Likely Benign	Uncertain Significance	[27]
Tunisia	1/NA	p.R32W	c.94C > T	rs1805063	Benign	Benign	Likely Benign	Benign	[32]
Austria	2/90								[33]
USA	2/126								[34]
Brazil	2/NA								[35]
Tunisia	4/NA	p.N119N	c.357C > T	rs41310442	Benign	Benign	Benign	Benign	[32]
Austria	4/90								[33]
China	7/186								[36]
USA	1/126								[34]
Morocco	1/390								[37]
Korea	36/424								[30]
China	1/216	p.N166S	c.497A > G	rs121908851	Uncertain Significance	Likely Benign	Pathogenic	Conflicting Interpretations	[38]
Korea	1/20	p.A194T	c.580G > A	rs117385606	Benign	Benign	Benign	Benign	[39]
China	2/216								[38]
Korea	7/430								[30]
Taiwan	4/506								[40]
China	2/NA								[41]
China	3/206	p.V84I	c.250G > A	rs145751680	Benign	Benign	Benign	Benign	[42]
Korea	7/424								[30]
Taiwan	1/506								[40]
Korea	1/40								[43]
China	1/NA								[41]
Austria	11/90	p.N266N	c.798C > T	rs35983826	Benign	Benign	Benign	Benign	[33]
USA	10/126								[34]
China	4/186								[36]
China	12/170								[41]
China	2/186	p.S11S	c.33C > T	rs112499125	Likely Benign	Benign	Likely Benign	Benign	[36]
USA	2/126	p.N67N	c.201C > T	-	Likely Benign	Uncertain Significance	-	Conflicting Interpretations	[34]
Korea	1/424	pV27M	c.79G > A	rs775072109	Uncertain Significance	Benign	-	Conflicting Interpretations	[30]
Korea	1/424	p.V43M	c.127G > A	rs761320902	Uncertain Significance	Likely Benign	-	Conflicting Interpretations	[30]
Korea	415/430		c.813+43C > A	rs41266429	-	Benign	Benign	Benign	[30]
Korea	351/430		c.813+53G > A	rs476220	-	Benign	Benign	Benign	[30]
China	2/4	p.E183K	c.547G > A	rs74315318	Likely Pathogenic	Benign	Conflicting Interpretations	Conflicting Interpretations	[44]
Taiwan	1/506								[40]
China	2/4	p.R180 *	c.538C > T	rs74315319	Uncertain Significance	Benign	Uncertain Significance	Uncertain Significance	[44]
Taiwan	2/506	p.L10R	c.29T > G	-	Uncertain Significance	Uncertain Significance	-	Uncertain Significance	[40]
Taiwan	1/506	p.T18I	c.53C > T	rs755025684	Uncertain Significance	Benign	-	Conflicting Interpretations	[40]
Brazil	1/NA	p.49delK	c.1227C > T	-	-	-	-	-	[35]
Australia	3/520	p.V174M	c.520G > A	rs749431664	Uncertain Significance	Uncertain Significance	-	Uncertain Significance	[40]
Brazil	2/414	p.Y177D	c.529T > G	rs80297119	Benign	Benign	Benign	Benign	[45]
Brazil	2/4								[35]
China	2/186	p.G256S	c.766G > A	-	Likely benign	Uncertain significance		Conflicting Interpretations	[36]

* The numerators in this column represent the number of mutated alleles, and the denominators the total number of screened alleles. NA, not applicable (the authors were not clear on the total number of alleles they have screened), InterVar, VarSome, and ClinVar are databases to assess the clinical significance of the variants.