List of variants in gene COL11A1 reported as pathogenic for Stickler syndrome type 2

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Gene type: Distinguish antisense genes from sense genes
Show significances as they were submitted (without aggregation into standard terms)
		ClinVar version:

Total variants: 9

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HGVS	dbSNP	gnomAD frequency
NM_001854.4(COL11A1):c.1191del (p.Asn398fs)
NM_001854.4(COL11A1):c.1630-2del	rs1057517989
NM_001854.4(COL11A1):c.1874G>T (p.Gly625Val)	rs121912943
NM_001854.4(COL11A1):c.3438+2_3438+3del	rs1557847904
NM_001854.4(COL11A1):c.3655-2del	rs2101074868
NM_001854.4(COL11A1):c.3816+1G>A	rs398122828
NM_001854.4(COL11A1):c.4396G>T (p.Glu1466Ter)	rs866783525
NM_001854.4(COL11A1):c.4519-2del	rs2100852418
NM_001854.4(COL11A1):c.4547G>T (p.Gly1516Val)	rs1553193910

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