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Gene: BBS1 & Disease: Fundus Dystrophy, 13 results

ClinVar	Gene	Nucleotide	Amino Acid	Transcript ID	Mutation type	Clinical Significance	Disease count	Publications
12143	BBS1	c.1169T>G	p.Met390Arg (p.M390R)	NM_024649.5 M	SNV	P	6 +	29
370228	BBS1	c.479G>A	p.Arg160Gln (p.R160Q)	NM_024649.5 M	SNV	P	5 +	9
370389	BBS1	c.223_224del	p.Leu75fs (p.L75fs)	NM_024649.5 M	Del	P	3 +	6
866282	BBS1	c.1473+2T>C	--	NM_024649.5 M	SNV	LP	1 +	5
865945	BBS1	c.724-8_726del	--	NM_024649.5 M	Del	P	2 +	4
12147	BBS1	c.1553T>C	p.Leu518Pro (p.L518P)	NM_024649.5 M	SNV	P	3 +	4
412283	BBS1	c.17dup	p.Ser7fs (p.S7fs)	NM_024649.5 M	Dup	P	3 +	3
35753	BBS1	c.670G>A	p.Glu224Lys (p.E224K)	NM_024649.5 M	SNV	P	3 +	2
193740	BBS1	c.887del	p.Ile296fs (p.I296fs)	NM_024649.5 M	Del	P	3 +	2
988658	BBS1	c.1205T>C	p.Leu402Pro (p.L402P)	NM_024649.5 M	SNV	LP	2 +	2
866100	BBS1	c.1682C>G	p.Ser561Ter (p.S561X)	NM_024649.5 M	SNV	LP	1 +	1
867194	BBS1	c.1114_1115insTGTG	p.Ala372fs (p.A372fs)	NM_024649.5 M	MS	P	1 +	0
866037	BBS1	c.1638C>A	p.Tyr546Ter (p.Y546X)	NM_024649.5 M	SNV	LP	1 +	0

13 Results, 20 per Page

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