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Gene: GDF5 & Disease: BDA1C, 6 results

ClinVar	Gene	Nucleotide	Amino Acid	Transcript ID	Mutation type	Clinical Significance	Disease count	Publications
1019956	GDF5	c.1198_1200dup	p.Cys400Dup (p.C400dup)	NM_000557.5 M	Dup	VUS	8 +	2
1019956	GDF5	c.1198_1200dup	p.Cys400Dup (p.C400dup)	NM_001319138.2	Dup	VUS	8 +	2
39515	GDF5	c.1195C>T	p.Arg399Cys (p.R399C)	NM_000557.5 M	SNV	P	1 +	1
8379	GDF5	c.1199G>A	p.Cys400Tyr (p.C400Y)	NM_000557.5 M	SNV	P	2 +	1
39515	GDF5	c.1195C>T	p.Arg399Cys (p.R399C)	NM_001319138.2	SNV	P	1 +	1
8379	GDF5	c.1199G>A	p.Cys400Tyr (p.C400Y)	NM_001319138.2	SNV	P	2 +	1

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