List of variants in gene COL18A1 reported as uncertain significance for Knobloch syndrome 1

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: 4

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HGVS	dbSNP	gnomAD frequency
NM_001379500.1(COL18A1):c.107-12210C>G	rs201773944	0.00064
NM_001379500.1(COL18A1):c.797C>T (p.Thr266Met)	rs760342643	0.00003
NM_001379500.1(COL18A1):c.799-6C>T	rs1286921439	0.00003
NM_001379500.1(COL18A1):c.845C>T (p.Thr282Met)	rs774455419	0.00001

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