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Gene: CAPN3 & Disease: LGMDR2, 6 results

ClinVar	Gene	Nucleotide	Amino Acid	Transcript ID	Mutation type	Clinical Significance	Disease count	Publications
932949	CAPN3	c.1813G>C	p.Val605Leu (p.V605L)	NM_000070.3 M	SNV	LP	2 +	1
	CAPN3	c.1795G>C	p.Val599Leu (p.V599L)	NM_024344.2	SNV	LP	2 +	1
	CAPN3	c.277G>C	p.Val93Leu (p.V93L)	NM_173088.2	SNV	LP	2 +	1
	CAPN3	c.1639-1080G>C	--	NM_173087.2	SNV	LP	2 +	1
	CAPN3	c.-81-1080G>C	--	NM_173090.2	SNV	LP	2 +	1
	CAPN3	c.-81-1080G>C	--	NM_173089.2	SNV	LP	2 +	1

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