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Gene: USH2A & Disease: Rare Genetic Deafness, 124 results

ClinVar	Gene	Nucleotide	Amino Acid	Transcript ID	Mutation type	Clinical Significance	Disease count	Publications
2351	USH2A	c.2299delG	--	NM_206933.4 M	Del	P	11 +	35
	USH2A	c.2299del	p.Glu767fs (p.E767fs)	NM_206933.4 M	Del	P	11 +	35
	USH2A	c.2299del	p.Glu767fs (p.E767fs)	NM_007123.6	Del	P	11 +	35
48476	USH2A	c.1841-2A>G	--	NM_206933.4 M	SNV	P	6 +	26
228414	USH2A	c.5776+1G>A	--	NM_206933.4 M	SNV	P	8 +	26
48476	USH2A	c.1841-2A>G	--	NM_007123.6	SNV	P	6 +	26
2357	USH2A	c.11864G>A	p.Trp3955Ter (p.W3955X)	NM_206933.4 M	SNV	P	9 +	24
48615	USH2A	c.920_923dup	p.His308fs (p.H308fs)	NM_206933.4 M	Dup	P	8 +	22
48615	USH2A	c.920_923dup	p.His308fs (p.H308fs)	NM_007123.6	Dup	P	8 +	22
48347	USH2A	c.1036A>C	p.Asn346His (p.N346H)	NM_206933.4 M	SNV	P	7 +	18
48347	USH2A	c.1036A>C	p.Asn346His (p.N346H)	NM_007123.6	SNV	P	7 +	18
2359	USH2A	c.1256G>T	p.Cys419Phe (p.C419F)	NM_206933.4 M	SNV	P	5 +	17
2359	USH2A	c.1256G>T	p.Cys419Phe (p.C419F)	NM_007123.6	SNV	P	5 +	17
48626	USH2A	c.9424G>T	p.Gly3142Ter (p.G3142X)	NM_206933.4 M	SNV	P	8 +	16
228411	USH2A	c.1000C>T	p.Arg334Trp (p.R334W)	NM_206933.4 M	SNV	P	5 +	15
228411	USH2A	c.1000C>T	p.Arg334Trp (p.R334W)	NM_007123.6	SNV	P	5 +	15
48355	USH2A	c.10712C>T	p.Thr3571Met (p.T3571M)	NM_206933.4 M	SNV	P	9 +	14
48604	USH2A	c.8559-2A>G	--	NM_206933.4 M	SNV	P	7 +	14
557167	USH2A	c.2610C>A	p.Cys870Ter (p.C870X)	NM_206933.4 M	SNV	P	5 +	13
2358	USH2A	c.949C>A	p.Arg317= (p.R317=)	NM_206933.4 M	SNV	P	6 +	13

124 Results, 20 per Page

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