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Gene: LMNA & Disease: LGMDR2, 7 results

ClinVar	Gene	Nucleotide	Amino Acid	Transcript ID	Mutation type	Clinical Significance	Disease count	Publications
932950	LMNA	c.550C>T	p.Gln184Ter (p.Q184X)	NM_170707.4 M	SNV	P	3 +	3
	LMNA	c.550C>T	p.Gln184Ter (p.Q184X)	NM_005572.4 MP	SNV	P	3 +	3
	LMNA	c.214C>T	p.Gln72Ter (p.Q72X)	NM_001257374.3	SNV	P	3 +	3
	LMNA	c.307C>T	p.Gln103Ter (p.Q103X)	NM_001282624.2	SNV	P	3 +	3
	LMNA	c.550C>T	p.Gln184Ter (p.Q184X)	NM_001282625.2	SNV	P	3 +	3
	LMNA	c.550C>T	p.Gln184Ter (p.Q184X)	NM_001282626.2	SNV	P	3 +	3
	LMNA	c.550C>T	p.Gln184Ter (p.Q184X)	NM_170708.4	SNV	P	3 +	3

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