List of variants in gene COL18A1 reported as likely pathogenic by NIHR Bioresource Rare Diseases, University of Cambridge

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.1897-2A>G	rs778612831	0.00001
NM_001379500.1(COL18A1):c.2368C>T (p.Arg790Ter)	rs1555870809
NM_001379500.1(COL18A1):c.2673del (p.Gly892fs)	rs749009747
Single allele

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