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Gene: GJB2 & Disease: Nonsyndromic Hearing Loss, 86 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
17009	GJB2	c.427C>T	p.Arg143Trp (p.R143W)	NM_004004.6 M	SNV	P	12 +	61
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
44754	GJB2	c.457G>A	p.Val153Ile (p.V153I)	NM_004004.6 M	SNV	LP	13 +	51
44745	GJB2	c.380G>A	p.Arg127His (p.R127H)	NM_004004.6 M	SNV	LB	5 +	50
17029	GJB2	c.-23+1G>A	--	NM_004004.6 M	SNV	P	16 +	44
17007	GJB2	c.551G>C	p.Arg184Pro (p.R184P)	NM_004004.6 M	SNV	P	12 +	43
17005	GJB2	c.139G>T	p.Glu47Ter (p.E47X)	NM_004004.6 M	SNV	P	12 +	39
44755	GJB2	c.478G>A	p.Gly160Ser (p.G160S)	NM_004004.6 M	SNV	LB	7 +	38
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
379889	GJB2	c.23C>T	p.Thr8Met (p.T8M)	NM_004004.6 M	SNV	LP	3 +	29
17006	GJB2	c.355GAG[1]	p.Glu120Del (p.E120del)	NM_004004.6 M	MS	P	12 +	28

86 Results, 20 per Page

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