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Gene: DES & Disease: Neuromuscular Disease, 4 results

ClinVar	Gene	Nucleotide	Amino Acid	Transcript ID	Mutation type	Clinical Significance	Disease count	Publications
66402	DES	c.1360C>T	p.Arg454Trp (p.R454W)	NM_001927.4 M	SNV	P	4 +	18
177872	DES	c.1285C>T	p.Arg429Ter (p.R429X)	NM_001927.4 M	SNV	P	4 +	13
178660	DES	c.600del	p.Lys201fs (p.K201fs)	NM_001927.4 M	Del	P	3 +	7
66412	DES	c.35C>T	p.Ser12Phe (p.S12F)	NM_001927.4 M	SNV	P	3 +	1

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