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Gene: LMNA & Disease: FPL, 62 results

ClinVar	Gene	Nucleotide	Amino Acid	Transcript ID	Mutation type	Clinical Significance	Disease count	Publications
14489	LMNA	c.1444C>T	p.Arg482Trp (p.R482W)	NM_170707.4 M	SNV	P	15 +	47
	LMNA	c.1444C>T	p.Arg482Trp (p.R482W)	NM_005572.4 MP	SNV	P	15 +	47
	LMNA	c.1108C>T	p.Arg370Trp (p.R370W)	NM_001257374.3	SNV	P	15 +	47
	LMNA	c.1201C>T	p.Arg401Trp (p.R401W)	NM_001282624.2	SNV	P	15 +	47
	LMNA	c.1444C>T	p.Arg482Trp (p.R482W)	NM_001282625.2	SNV	P	15 +	47
	LMNA	c.1444C>T	p.Arg482Trp (p.R482W)	NM_001282626.2	SNV	P	15 +	47
	LMNA	c.1444C>T	p.Arg482Trp (p.R482W)	NM_170708.4	SNV	P	15 +	47
14517	LMNA	c.1718C>T	p.Ser573Leu (p.S573L)	NM_170707.4 M	SNV	P	8 +	30
	LMNA	c.1382C>T	p.Ser461Leu (p.S461L)	NM_001257374.3	SNV	P	8 +	30
	LMNA	c.1718C>T	p.Ser573Leu (p.S573L)	NM_001282626.2	SNV	P	8 +	30
	LMNA	c.1628C>T	p.Ser543Leu (p.S543L)	NM_170708.4	SNV	P	8 +	30
368833	LMNA	c.1698+124C>T	--	NM_170707.4 M	SNV	VUS	9 +	0
292827	LMNA	c.-142C>A	--	NM_170707.4 M	SNV	VUS	9 +	0
292830	LMNA	c.-109G>T	--	NM_170707.4 M	SNV	VUS	9 +	0
292832	LMNA	c.-62C>A	--	NM_170707.4 M	SNV	VUS	9 +	0
292833	LMNA	c.-5C>A	--	NM_170707.4 M	SNV	VUS	9 +	0
292837	LMNA	c.936+12C>T	--	NM_170707.4 M	SNV	LB	10 +	0
292838	LMNA	c.985C>A	p.Arg329Ser (p.R329S)	NM_170707.4 M	SNV	VUS	11 +	0
292826	LMNA	c.-183C>A	--	NM_170707.4 M	SNV	VUS	9 +	0
292827	LMNA	c.-142C>A	--	NM_005572.4 MP	SNV	VUS	9 +	0

62 Results, 20 per Page

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