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Gene: CLDN1 & Disease: ILVASC, 4 results

ClinVar	Gene	Nucleotide	Amino Acid	Transcript ID	Mutation type	Clinical Significance	Disease count	Publications
6088	CLDN1	c.200_201del	p.Val66_Phe67insTer	NM_021101.5 M	Del	P	1 +	2
6089	CLDN1	c.358del	p.Val120fs (p.V120fs)	NM_021101.5 M	Del	P	1 +	1
195367	CLDN1	c.369T>C	p.Gly123= (p.G123=)	NM_021101.5 M	SNV	B	1 +	0
1322095	CLDN1	c.141C>A	p.Tyr47Ter (p.Y47X)	NM_021101.5 M	SNV	P	1 +	0

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