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Gene: PLN & Disease: Hypertrophic Cardiomyopathy, 6 results

ClinVar	Gene	Nucleotide	Amino Acid	Transcript ID	Mutation type	Clinical Significance	Disease count	Publications
13637	PLN	c.116T>G	p.Leu39Ter (p.L39X)	NM_002667.5 M	SNV	P	6 +	11
202039	PLN	c.63_64dup	p.Gln22fs (p.Q22fs)	NM_002667.5 M	Dup	P	2 +	9
573774	PLN	c.53T>C	p.Ile18Thr (p.I18T)	NM_002667.5 M	SNV	VUS	3 +	5
355134	PLN	c.-142T>A	--	NM_002667.5 M	SNV	VUS	3 +	0
355139	PLN	c.*199T>A	--	NM_002667.5 M	SNV	VUS	1 +	0
355143	PLN	c.436_438del	--	NM_002667.5 M	Del	VUS	1 +	0

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