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Gene: FMR1 & Disease: POF1, 15 results

ClinVar	Gene	Nucleotide	Amino Acid	Transcript ID	Mutation type	Clinical Significance	Disease count	Publications
129104	FMR1	c.433G>T	p.Ala145Ser (p.A145S)	NM_002024.6 M	SNV	LB	4 +	1
587984	FMR1	c.18G>T	p.Val6= (p.V6=)	NM_002024.6 M	SNV	LB	4 +	1
94023	FMR1	c.414G>A	p.Arg138= (p.R138=)	NM_002024.6 M	SNV	LB	4 +	1
129104	FMR1	c.433G>T	p.Ala145Ser (p.A145S)	NM_001185075.2	SNV	LB	4 +	1
	FMR1	c.433G>T	p.Ala145Ser (p.A145S)	NM_001185076.2	SNV	LB	4 +	1
	FMR1	c.433G>T	p.Ala145Ser (p.A145S)	NM_001185081.2	SNV	LB	4 +	1
	FMR1	c.433G>T	p.Ala145Ser (p.A145S)	NM_001185082.2	SNV	LB	4 +	1
587984	FMR1	c.18G>T	p.Val6= (p.V6=)	NM_001185075.2	SNV	LB	4 +	1
	FMR1	c.18G>T	p.Val6= (p.V6=)	NM_001185076.2	SNV	LB	4 +	1
	FMR1	c.18G>T	p.Val6= (p.V6=)	NM_001185081.2	SNV	LB	4 +	1
	FMR1	c.18G>T	p.Val6= (p.V6=)	NM_001185082.2	SNV	LB	4 +	1
94023	FMR1	c.414G>A	p.Arg138= (p.R138=)	NM_001185075.2	SNV	LB	4 +	1
	FMR1	c.414G>A	p.Arg138= (p.R138=)	NM_001185076.2	SNV	LB	4 +	1
	FMR1	c.414G>A	p.Arg138= (p.R138=)	NM_001185081.2	SNV	LB	4 +	1
	FMR1	c.414G>A	p.Arg138= (p.R138=)	NM_001185082.2	SNV	LB	4 +	1

15 Results, 20 per Page

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