List of variants in gene COL2A1 reported as pathogenic by Ambry Genetics

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: 7

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HGVS	dbSNP	gnomAD frequency
NM_001844.5(COL2A1):c.115C>T (p.Gln39Ter)	rs1940161368
NM_001844.5(COL2A1):c.1388_1996-108del
NM_001844.5(COL2A1):c.1510G>A (p.Gly504Ser)	rs121912880
NM_001844.5(COL2A1):c.1528G>T (p.Gly510Cys)	rs1555167157
NM_001844.5(COL2A1):c.2302-2A>G	rs1939127867
NM_001844.5(COL2A1):c.3265G>A (p.Gly1089Arg)	rs1555165183
NM_001844.5(COL2A1):c.3879G>A (p.Trp1293Ter)	rs1555164672

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