List of variants in gene COL2A1 reported as likely pathogenic by Clinical Genetics and Genomics, Karolinska University Hospital

Minimum submission review status:		Collection method:
Minimum conflict level: Report conflict between different conditions
Gene type: Distinguish antisense genes from sense genes
Show significances as they were submitted (without aggregation into standard terms)
		ClinVar version:

Total variants: 5

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HGVS	dbSNP	gnomAD frequency
NM_001844.5(COL2A1):c.2059G>A (p.Gly687Ser)	rs1939189846
NM_001844.5(COL2A1):c.2763_2771del (p.Pro922_Gly924del)	rs1938871701
NM_001844.5(COL2A1):c.3437G>A (p.Gly1146Asp)	rs1938719104
NM_001844.5(COL2A1):c.3590G>C (p.Gly1197Ala)	rs1938686073
NM_001844.5(COL2A1):c.3655G>C (p.Asp1219His)	rs760093841

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