List of variants in gene COL11A2 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: 9

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HGVS	dbSNP	gnomAD frequency
NM_080680.3(COL11A2):c.3946C>A (p.Pro1316Thr)	rs2229784	0.04406
NM_080680.3(COL11A2):c.5165C>T (p.Pro1722Leu)	rs2229792	0.01881
NM_080680.3(COL11A2):c.1782C>T (p.Asp594=)	rs41266697	0.00686
NM_080680.3(COL11A2):c.2520G>A (p.Arg840=)	rs117237998	0.00345
NM_080680.3(COL11A2):c.3583-5T>C	rs183536190	0.00219
NM_080680.3(COL11A2):c.4884G>C (p.Glu1628Asp)	rs2229790	0.00055
NM_080680.3(COL11A2):c.517C>T (p.Arg173Trp)	rs146522169	0.00051
NM_080680.3(COL11A2):c.4863+7G>A	rs200947059	0.00016
NM_080680.3(COL11A2):c.4898G>A (p.Gly1633Asp)	rs143920565	0.00010

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