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Gene: BBS4 & Disease: CORD2, 12 results

ClinVar	Gene	Nucleotide	Amino Acid	Transcript ID	Mutation type	Clinical Significance	Disease count	Publications
1209985	BBS4	c.777_778del	p.Tyr259_Arg260delinsTer	NM_033028.5 M	Del	P	4 +	5
	BBS4	c.261_262del	p.Tyr87_Arg88delinsTer	NM_001252678.2	Del	P	4 +	5
	BBS4	c.708_709del	p.Tyr236_Arg237delinsTer	NM_001320665.2	Del	P	4 +	5
813022	BBS4	c.1107-10_1107-7del	--	NM_033028.5 M	MS	P	4 +	2
	BBS4	c.1038-10_1038-7del	--	NM_001320665.2	MS	P	4 +	2
	BBS4	c.591-10_591-7del	--	NM_001252678.2	MS	P	4 +	2
813021	BBS4	c.1541_1551del	p.Glu514fs (p.E514fs)	NM_033028.5 M	Del	P	3 +	1
1297144	BBS4	c.864+1G>C	--	NM_033028.5 M	SNV	LP	3 +	1
813021	BBS4	c.1025_1035del	p.Glu342fs (p.E342fs)	NM_001252678.2	Del	P	3 +	1
813021	BBS4	c.1472_1482del	p.Glu491fs (p.E491fs)	NM_001320665.2	Del	P	3 +	1
1297144	BBS4	c.795+1G>C	--	NM_001320665.2	SNV	LP	3 +	1
1297144	BBS4	c.348+1G>C	--	NM_001252678.2	SNV	LP	3 +	1

12 Results, 20 per Page

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