List of variants in gene COL11A1 reported as pathogenic by GeneDx

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: 12

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HGVS	dbSNP	gnomAD frequency
GRCh38/hg38 1p21.1(chr1:102915924-102966355)x1
NM_001854.4(COL11A1):c.1630-2del	rs1057517989
NM_001854.4(COL11A1):c.1685G>A (p.Gly562Asp)	rs886039743
NM_001854.4(COL11A1):c.2662C>T (p.Arg888Ter)	rs748815162
NM_001854.4(COL11A1):c.2754+5G>A	rs1057518666
NM_001854.4(COL11A1):c.2755-2A>G	rs2101653580
NM_001854.4(COL11A1):c.2808+1G>A	rs1553223152
NM_001854.4(COL11A1):c.3168+1G>T	rs886042653
NM_001854.4(COL11A1):c.3816+1G>A	rs398122828
NM_001854.4(COL11A1):c.3816+1G>C	rs398122828
NM_001854.4(COL11A1):c.3816+2dup	rs1469787406
NM_001854.4(COL11A1):c.4084C>T (p.Arg1362Ter)	rs755987732

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