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Gene: GNB2 & Disease: NEDHYDF, 7 results

ClinVar	Gene	Nucleotide	Amino Acid	Transcript ID	Mutation type	Clinical Significance	Disease count	Publications
1217306	GNB2	c.265A>G	p.Lys89Glu (p.K89E)	NM_005273.4 M	SNV	P	1 +	3
977754	GNB2	c.229G>A	p.Gly77Arg (p.G77R)	NM_005273.4 M	SNV	P	1 +	2
1217305	GNB2	c.217G>A	p.Ala73Thr (p.A73T)	NM_005273.4 M	SNV	P	1 +	1
1217307	GNB2	c.266A>C	p.Lys89Thr (p.K89T)	NM_005273.4 M	SNV	P	1 +	1
1013609	GNB2	c.229G>T	p.Gly77Trp (p.G77W)	NM_005273.4 M	SNV	P	1 +	1
1805976	GNB2	c.784C>T	p.Leu262Phe (p.L262F)	NM_005273.4 M	SNV	VUS	1 +	0
2429882	GNB2	c.284T>C	p.Leu95Pro (p.L95P)	NM_005273.4 M	SNV	LP	1 +	0

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