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Gene: FKRP & Disease: MDDG, 4 results

ClinVar	Gene	Nucleotide	Amino Acid	Transcript ID	Mutation type	Clinical Significance	Disease count	Publications
4221	FKRP	c.826C>A	p.Leu276Ile (p.L276I)	NM_024301.5 M	SNV	P	12 +	42
4221	FKRP	c.826C>A	p.Leu276Ile (p.L276I)	NM_001039885.3	SNV	P	12 +	42
4223	FKRP	c.1486T>A	p.Ter496Arg (p.X496R)	NM_024301.5 M	SNV	P	5 +	5
4223	FKRP	c.1486T>A	p.Ter496Arg (p.X496R)	NM_001039885.3	SNV	P	5 +	5

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