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Gene: MKS1 & Disease: LCA6, 4 results

ClinVar	Gene	Nucleotide	Amino Acid	Transcript ID	Mutation type	Clinical Significance	Disease count	Publications
56627	MKS1	c.958G>A	p.Val320Ile (p.V320I)	NM_017777.4 M	SNV	LP	3 +	5
	MKS1	c.349G>A	p.Val117Ile (p.V117I)	NM_001321268.2	SNV	LP	3 +	5
	MKS1	c.958G>A	p.Val320Ile (p.V320I)	NM_001321269.2	SNV	LP	3 +	5
	MKS1	c.958G>A	p.Val320Ile (p.V320I)	NM_001330397.2	SNV	LP	3 +	5

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