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Gene: COL2A1 & Disease: DDH1, 4 results

ClinVar	Gene	Nucleotide	Amino Acid	Transcript ID	Mutation type	Clinical Significance	Disease count	Publications
17368	COL2A1	c.823C>T	p.Arg275Cys (p.R275C)	NM_001844.5 M	SNV	P	4 +	7
17368	COL2A1	c.616C>T	p.Arg206Cys (p.R206C)	NM_033150.3	SNV	P	4 +	7
374114	COL2A1	c.1916G>A	p.Gly639Asp (p.G639D)	NM_001844.5 M	SNV	LP	3 +	1
374114	COL2A1	c.1709G>A	p.Gly570Asp (p.G570D)	NM_033150.3	SNV	LP	3 +	1

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