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Gene: LAMB3 & Disease: Skin Disease, 6 results

ClinVar	Gene	Nucleotide	Amino Acid	Transcript ID	Mutation type	Clinical Significance	Disease count	Publications
1180728	LAMB3	c.2582C>A	p.Ser861Ter (p.S861X)	NM_000228.3 M	SNV	LP	1 +	0
1180738	LAMB3	c.1289-2_1296del	--	NM_000228.3 M	Del	P	1 +	0
1180728	LAMB3	c.2582C>A	p.Ser861Ter (p.S861X)	NM_001127641.1	SNV	LP	1 +	0
1180728	LAMB3	c.2582C>A	p.Ser861Ter (p.S861X)	NM_001017402.2	SNV	LP	1 +	0
1180738	LAMB3	c.1289-2_1296del	--	NM_001127641.1	Del	P	1 +	0
1180738	LAMB3	c.1289-2_1296del	--	NM_001017402.2	Del	P	1 +	0

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