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Gene: BBS5 & Disease: BBS5, 51 results

ClinVar	Gene	Nucleotide	Amino Acid	Transcript ID	Mutation type	Clinical Significance	Disease count	Publications
812227	BBS5	c.619-1G>C	--	NM_152384.3 M	SNV	P	4 +	8
569727	BBS5	c.143-1G>C	--	NM_152384.3 M	SNV	P	2 +	7
531823	BBS5	c.265C>T	p.Arg89Ter (p.R89X)	NM_152384.3 M	SNV	P	2 +	7
560430	BBS5	c.209-2A>G	--	NM_152384.3 M	SNV	P	1 +	7
1033147	BBS5	c.709del	p.Lys236_Ile237insTer	NM_152384.3 M	Del	P	2 +	6
1210083	BBS5	c.425T>G	p.Leu142Ter (p.L142X)	NM_152384.3 M	SNV	P	2 +	6
956784	BBS5	c.303dup	p.Asn102Ter (p.N102X)	NM_152384.3 M	Dup	P	2 +	6
6161	BBS5	c.214G>A	p.Gly72Ser (p.G72S)	NM_152384.3 M	SNV	P	2 +	6
6160	BBS5	c.177G>A	p.Trp59Ter (p.W59X)	NM_152384.3 M	SNV	P	1 +	6
437994	BBS5	c.900G>C	p.Val300= (p.V300=)	NM_152384.3 M	SNV	LB	3 +	3
1425304	BBS5	c.668A>T	p.Glu223Val (p.E223V)	NM_152384.3 M	SNV	VUS	2 +	2
841782	BBS5	c.593A>G	p.Asn198Ser (p.N198S)	NM_152384.3 M	SNV	LB	2 +	2
6157	BBS5	c.522+3A>G	--	NM_152384.3 M	SNV	P	2 +	2
1056120	BBS5	c.259-3C>G	--	NM_152384.3 M	SNV	LP	2 +	2
1382286	BBS5	c.259-3C>T	--	NM_152384.3 M	SNV	LB	2 +	2
1482234	BBS5	c.59+5G>A	--	NM_152384.3 M	SNV	VUS	2 +	2
6158	BBS5	c.425T>A	p.Leu142Ter (p.L142X)	NM_152384.3 M	SNV	P	1 +	1
1333336	BBS5	c.791G>T	p.Gly264Val (p.G264V)	NM_152384.3 M	SNV	VUS	1 +	1
412295	BBS5	c.751A>G	p.Asn251Asp (p.N251D)	NM_152384.3 M	SNV	LB	2 +	1
6162	BBS5	c.547A>G	p.Thr183Ala (p.T183A)	NM_152384.3 M	SNV	P	1 +	1

51 Results, 20 per Page

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