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Gene: USH1C & Disease: Fundus Dystrophy, 13 results

ClinVar	Gene	Nucleotide	Amino Acid	Transcript ID	Mutation type	Clinical Significance	Disease count	Publications
5141	USH1C	c.238dup	p.Arg80fs (p.R80fs)	NM_153676.4 M	Dup	P	10 +	14
	USH1C	c.238dup	p.Arg80fs (p.R80fs)	NM_005709.4 MP	Dup	P	10 +	14
	USH1C	c.238dupC	--	NM_005709.4 MP	Dup	P	10 +	14
	USH1C	c.238dup	p.Arg80fs (p.R80fs)	NM_001297764.2	Dup	P	10 +	14
866066	USH1C	c.491_492del	p.Val164fs (p.V164fs)	NM_153676.4 M	Del	P	1 +	4
	USH1C	c.491_492del	p.Val164fs (p.V164fs)	NM_005709.4 MP	Del	P	1 +	4
	USH1C	c.491_492del	p.Val164fs (p.V164fs)	NM_001297764.2	Del	P	1 +	4
236494	USH1C	c.1210+5G>A	--	NM_153676.4 M	SNV	VUS	3 +	1
	USH1C	c.1210+5G>A	--	NM_005709.4 MP	SNV	VUS	3 +	1
	USH1C	c.1153+5G>A	--	NM_001297764.2	SNV	VUS	3 +	1
865761	USH1C	c.560del	p.Gln187fs (p.Q187fs)	NM_153676.4 M	Del	LP	1 +	0
	USH1C	c.560del	p.Gln187fs (p.Q187fs)	NM_005709.4 MP	Del	LP	1 +	0
	USH1C	c.560del	p.Gln187fs (p.Q187fs)	NM_001297764.2	Del	LP	1 +	0

13 Results, 20 per Page

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