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Gene: GJB3 & Disease: DFNB1A, 16 results

ClinVar	Gene	Nucleotide	Amino Acid	Transcript ID	Mutation type	Clinical Significance	Disease count	Publications
6492	GJB3	c.497A>G	p.Asn166Ser (p.N166S)	NM_024009.3 M	SNV	P	1 +	1
6493	GJB3	c.580G>A	p.Ala194Thr (p.A194T)	NM_024009.3 M	SNV	P	3 +	1
6492	GJB3	c.497A>G	p.Asn166Ser (p.N166S)	NM_001005752.2	SNV	P	1 +	1
6493	GJB3	c.580G>A	p.Ala194Thr (p.A194T)	NM_001005752.2	SNV	P	3 +	1
46085	GJB3	c.579C>T	p.Gly193= (p.G193=)	NM_024009.3 M	SNV	LB	3 +	0
806107	GJB3	c.342del	p.Lys115fs (p.K115fs)	NM_024009.3 M	Del	VUS	3 +	0
289016	GJB3	c.499G>A	p.Val167Met (p.V167M)	NM_024009.3 M	SNV	LB	3 +	0
694016	GJB3	c.586G>A	p.Ala196Thr (p.A196T)	NM_024009.3 M	SNV	VUS	1 +	0
786722	GJB3	c.250G>A	p.Val84Ile (p.V84I)	NM_024009.3 M	SNV	LB	3 +	0
627448	GJB3	c.8G>A	p.Trp3Ter (p.W3X)	NM_024009.3 M	SNV	P	1 +	0
46085	GJB3	c.579C>T	p.Gly193= (p.G193=)	NM_001005752.2	SNV	LB	3 +	0
806107	GJB3	c.342del	p.Lys115fs (p.K115fs)	NM_001005752.2	Del	VUS	3 +	0
289016	GJB3	c.499G>A	p.Val167Met (p.V167M)	NM_001005752.2	SNV	LB	3 +	0
694016	GJB3	c.586G>A	p.Ala196Thr (p.A196T)	NM_001005752.2	SNV	VUS	1 +	0
786722	GJB3	c.250G>A	p.Val84Ile (p.V84I)	NM_001005752.2	SNV	LB	3 +	0
627448	GJB3	c.8G>A	p.Trp3Ter (p.W3X)	NM_001005752.2	SNV	P	1 +	0

16 Results, 20 per Page

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