List of variants in gene COL2A1 reported as pathogenic for Stickler syndrome, type I, nonsyndromic ocular

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Gene type: Distinguish antisense genes from sense genes
Show significances as they were submitted (without aggregation into standard terms)
		ClinVar version:

Total variants: 10

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HGVS	dbSNP	gnomAD frequency
NM_001844.5(COL2A1):c.141G>A (p.Trp47Ter)	rs121912896
NM_001844.5(COL2A1):c.1420-1G>A
NM_001844.5(COL2A1):c.1693C>T (p.Arg565Cys)	rs121912884
NM_001844.5(COL2A1):c.170G>A (p.Cys57Tyr)	rs121912898
NM_001844.5(COL2A1):c.171_172del (p.Cys57_Asp58delinsTer)	rs2136637244
NM_001844.5(COL2A1):c.192C>A (p.Cys64Ter)	rs121912897
NM_001844.5(COL2A1):c.1999C>T (p.Leu667Phe)	rs121912885
NM_001844.5(COL2A1):c.3886+2T>C	rs1592196064
NM_001844.5(COL2A1):c.565G>T (p.Glu189Ter)
NM_001844.5(COL2A1):c.800G>A (p.Gly267Asp)	rs121912872

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