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Gene: OPN1LW & Disease: BCM, 6 results

ClinVar	Gene	Nucleotide	Amino Acid	Transcript ID	Mutation type	Clinical Significance	Disease count	Publications
10505	OPN1LW	c.607T>C	p.Cys203Arg (p.C203R)	NM_020061.6 M	SNV	P	2 +	3
10503	OPN1LW	c.739C>T	p.Arg247Ter (p.R247X)	NM_020061.6 M	SNV	P	1 +	2
1326976	OPN1LW	c.513G>T	p.Val171= (p.V171=)	NM_020061.6 M	SNV	B	1 +	1
1299568	OPN1LW	c.269G>A	p.Trp90Ter (p.W90X)	NM_020061.6 M	SNV	P	1 +	1
1326975	OPN1LW	c.511G>A	p.Val171Met (p.V171M)	NM_020061.6 M	SNV	B	1 +	1
2584668	OPN1LW	c.843G>T	p.Trp281Cys (p.W281C)	NM_020061.6 M	SNV	VUS	1 +	1

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