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Gene: BBS1 & Disease: CORD2, 14 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
12144	BBS1	c.1645G>T	p.Glu549Ter (p.E549X)	NM_024649.5 M	SNV	P	4 +	13
370228	BBS1	c.479G>A	p.Arg160Gln (p.R160Q)	NM_024649.5 M	SNV	P	5 +	9
585171	BBS1	c.1177C>T	p.Arg393Ter (p.R393X)	NM_024649.5 M	SNV	P	4 +	5
635996	BBS1	c.1110+3G>C	--	NM_024649.5 M	SNV	P	3 +	4
554929	BBS1	c.664G>C	p.Gly222Arg (p.G222R)	NM_024649.5 M	SNV	VUS	4 +	2
1297130	BBS1	c.1473+2T>G	--	NM_024649.5 M	SNV	LP	2 +	1
1297133	BBS1	c.592-21A>T	--	NM_024649.5 M	SNV	VUS	2 +	1
636150	BBS1	c.1660A>T	p.Ser554Cys (p.S554C)	NM_024649.5 M	SNV	VUS	4 +	1
493094	BBS1	c.41C>G	p.Ala14Gly (p.A14G)	NM_024649.5 M	SNV	P	2 +	1
444259	BBS1	c.952G>A	p.Gly318Arg (p.G318R)	NM_024649.5 M	SNV	P	3 +	1
444260	BBS1	c.1232_1235del	p.Gly411fs (p.G411fs)	NM_024649.5 M	MS	P	3 +	1
813017	BBS1	c.1608+1G>A	--	NM_024649.5 M	SNV	P	3 +	1
438041	BBS1	c.1713del	p.Gly572fs (p.G572fs)	NM_024649.5 M	Del	LP	2 +	0

14 Results, 20 per Page

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