List of variants in gene combination COL18A1, SLC19A1 reported as pathogenic for Knobloch syndrome

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: 10

Download table as spreadsheet

HGVS	dbSNP	gnomAD frequency
NM_001379500.1(COL18A1):c.3778G>A (p.Asp1260Asn)	rs12483377	0.06693
NM_001379500.1(COL18A1):c.3523_3524del (p.Leu1175fs)	rs398122391	0.00029
NM_001379500.1(COL18A1):c.3809+2T>C	rs113847452	0.00001
NM_001379500.1(COL18A1):c.2823dup (p.Gly942fs)	rs769882681
NM_001379500.1(COL18A1):c.2978_2987del (p.Pro993fs)	rs756797124
NM_001379500.1(COL18A1):c.3013+3A>C	rs770631950
NM_001379500.1(COL18A1):c.3329_3336del (p.His1110fs)
NM_001379500.1(COL18A1):c.3522_3523del (p.Leu1175fs)	rs1602651770
NM_001379500.1(COL18A1):c.3532_3533del (p.Gly1178fs)	rs2037488871
NM_001379500.1(COL18A1):c.3959_3960insTGCC (p.Cys1321fs)	rs1555877107

The information on this website is not intended for direct diagnostic use or medical decision-making without review by a genetics professional. Individuals should not change their health behavior solely on the basis of information contained on this website. Neither the University of Utah nor the National Institutes of Health independently verfies the submitted information. If you have questions about the information contained on this website, please see a health care professional.