List of variants in gene combination COL11A1, LOC126805814 reported as uncertain significance 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: 5

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HGVS	dbSNP	gnomAD frequency
NM_001854.4(COL11A1):c.5198G>A (p.Arg1733His)	rs140250347	0.00044
NM_001854.4(COL11A1):c.5273C>T (p.Ala1758Val)	rs202065765	0.00012
NM_001854.4(COL11A1):c.5223G>C (p.Glu1741Asp)	rs370598483	0.00002
NM_001854.4(COL11A1):c.5041-2A>G
NM_001854.4(COL11A1):c.5169G>A (p.Val1723=)	rs1649996140

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