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Gene: GUCA1B & Disease: RP48, 5 results

ClinVar	Gene	Nucleotide	Amino Acid	Transcript ID	Mutation type	Clinical Significance	Disease count	Publications
7369	GUCA1B	c.469G>A	p.Gly157Arg (p.G157R)	NM_002098.6 M	SNV	P	3 +	3
100571	GUCA1B	c.253G>A	p.Val85Met (p.V85M)	NM_002098.6 M	SNV	LB	3 +	2
1941063	GUCA1B	c.56C>T	p.Ala19Val (p.A19V)	NM_002098.6 M	SNV	VUS	1 +	0
501953	GUCA1B	c.-17T>C	--	NM_002098.6 M	SNV	B	1 +	0
356736	GUCA1B	c.171T>C	p.Tyr57= (p.Y57=)	NM_002098.6 M	SNV	B	3 +	0

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