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Gene: GJB1 & Disease: DSS, 6 results

ClinVar	Gene	Nucleotide	Amino Acid	Transcript ID	Mutation type	Clinical Significance	Disease count	Publications
10451	GJB1	c.407T>C	p.Val136Ala (p.V136A)	NM_000166.6 M	SNV	P	2 +	3
10451	GJB1	c.407T>C	p.Val136Ala (p.V136A)	NM_001097642.3	SNV	P	2 +	3
220932	GJB1	c.235C>T	p.Leu79= (p.L79=)	NM_000166.6 M	SNV	LB	2 +	2
220932	GJB1	c.235C>T	p.Leu79= (p.L79=)	NM_001097642.3	SNV	LB	2 +	2
637925	GJB1	c.244A>G	p.Ile82Val (p.I82V)	NM_000166.6 M	SNV	VUS	1 +	1
637925	GJB1	c.244A>G	p.Ile82Val (p.I82V)	NM_001097642.3	SNV	VUS	1 +	1

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