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Gene: DSC3 & Disease: HYPTSV, 6 results

ClinVar	Gene	Nucleotide	Amino Acid	Transcript ID	Mutation type	Clinical Significance	Disease count	Publications
9231	DSC3	c.2129T>G	p.Leu710Ter (p.L710X)	NM_001941.5 M	SNV	P	1 +	1
1065567	DSC3	c.2180T>G	p.Leu727Ter (p.L727X)	NM_001941.5 M	SNV	P	1 +	1
9231	DSC3	c.2129T>G	p.Leu710Ter (p.L710X)	NM_024423.4	SNV	P	1 +	1
1065567	DSC3	c.2180T>G	p.Leu727Ter (p.L727X)	NM_024423.4	SNV	P	1 +	1
2441782	DSC3	c.1123C>T	p.Arg375Ter (p.R375X)	NM_001941.5 M	SNV	LP	1 +	0
2441782	DSC3	c.1123C>T	p.Arg375Ter (p.R375X)	NM_024423.4	SNV	LP	1 +	0

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