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Gene: GJB2 & Disease: DFNB1B, 22 results

ClinVar	Gene	Nucleotide	Amino Acid	Transcript ID	Mutation type	Clinical Significance	Disease count	Publications
17004	GJB2	c.35del	p.Gly12fs (p.G12fs)	NM_004004.6 M	Del	P	17 +	93
17004	GJB2	c.35delG	--	NM_004004.6 M	Del	P	17 +	93
17023	GJB2	c.109G>A	p.Val37Ile (p.V37I)	NM_004004.6 M	SNV	P	13 +	57
17000	GJB2	c.101T>C	p.Met34Thr (p.M34T)	NM_004004.6 M	SNV	P	12 +	56
17002	GJB2	c.71G>A	p.Trp24Ter (p.W24X)	NM_004004.6 M	SNV	P	15 +	54
17029	GJB2	c.-23+1G>A	--	NM_004004.6 M	SNV	P	16 +	44
17016	GJB2	c.269T>C	p.Leu90Pro (p.L90P)	NM_004004.6 M	SNV	P	13 +	35
17014	GJB2	c.235del	p.Leu79fs (p.L79fs)	NM_004004.6 M	Del	P	14 +	33
	GJB2	c.235delC	--	NM_004004.6 M	Del	P	14 +	33
	GJB2	c.235_236delinsT	--	NM_004004.6 M	Del	P	14 +	33
17010	GJB2	c.167del	p.Leu56fs (p.L56fs)	NM_004004.6 M	Del	P	13 +	30
17010	GJB2	c.167delT	--	NM_004004.6 M	Del	P	13 +	30
44749	GJB2	c.416G>A	p.Ser139Asn (p.S139N)	NM_004004.6 M	SNV	P	11 +	28
44763	GJB2	c.617A>G	p.Asn206Ser (p.N206S)	NM_004004.6 M	SNV	P	13 +	24
44736	GJB2	c.299_300del	p.His100fs (p.H100fs)	NM_004004.6 M	Del	P	12 +	22
44736	GJB2	c.299_300delAT	--	NM_004004.6 M	Del	P	12 +	22
17001	GJB2	c.231G>A	p.Trp77Ter (p.W77X)	NM_004004.6 M	SNV	P	13 +	21
44740	GJB2	c.34G>T	p.Gly12Cys (p.G12C)	NM_004004.6 M	SNV	P	13 +	19
44737	GJB2	c.313_326del	p.Lys105fs (p.K105fs)	NM_004004.6 M	Del	P	5 +	18
44737	GJB2	c.313_326delAAGTTCATCAAGGG	--	NM_004004.6 M	Del	P	5 +	18

22 Results, 20 per Page

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