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Mutation Direct

Effortless mutation search and display tool

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Gene: RYR2 & Disease: VF1, 2 results

ClinVar	Gene	Nucleotide	Amino Acid	Transcript ID	Mutation type	Clinical Significance	Disease count	Publications
36739	RYR2	c.2267G>A	p.Ser756Asn (p.S756N)	NM_001035.3 M	SNV	LP	2 +	1
180506	RYR2	c.14635C>A	p.Gln4879Lys (p.Q4879K)	NM_001035.3 M	SNV	LP	1 +	0

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