List of variants in gene COL2A1 reported by Athena Diagnostics Inc

Minimum submission review status:		Collection method:
Minimum conflict level: Report conflict between different conditions
Gene type: Distinguish antisense genes from sense genes
		ClinVar version:

Total variants: 15

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HGVS	dbSNP	gnomAD frequency
NM_001844.5(COL2A1):c.1527+88T>C	rs1635544	0.46977
NM_001844.5(COL2A1):c.1527+158T>G	rs1635547	0.46936
NM_001844.5(COL2A1):c.1527+155T>C	rs1635546	0.46934
NM_001844.5(COL2A1):c.3000G>A (p.Pro1000=)	rs1793947	0.02436
NM_001844.5(COL2A1):c.*4C>T	rs41272773	0.02262
NM_001844.5(COL2A1):c.610-7G>A	rs7967258	0.01915
NM_001844.5(COL2A1):c.1266+7G>A	rs41317915	0.01359
NM_001844.5(COL2A1):c.1545C>A (p.Arg515=)	rs41317925	0.01027
NM_001844.5(COL2A1):c.213C>T (p.Asp71=)	rs112469769	0.00730
NM_001844.5(COL2A1):c.2334C>T (p.Ala778=)	rs35504014	0.00278
NM_001844.5(COL2A1):c.1287T>C (p.Gly429=)	rs35012272	0.00058
NM_001844.5(COL2A1):c.3084G>T (p.Thr1028=)	rs142786064	0.00010
NM_001844.5(COL2A1):c.2949C>T (p.Val983=)	rs201719788	0.00007
NM_001844.5(COL2A1):c.1649G>T (p.Arg550Leu)	rs186233557
NM_001844.5(COL2A1):c.631C>T (p.Pro211Ser)	rs1565693325

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