List of variants in gene LTBP2 reported as benign for congenital glaucoma

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: 13

Download table as spreadsheet

HGVS	dbSNP	gnomAD frequency
NM_000428.3(LTBP2):c.2406T>C (p.Thr802=)	rs699374	0.35704
NM_000428.3(LTBP2):c.*824C>T	rs7569	0.34968
NM_000428.3(LTBP2):c.*1818C>T	rs1052939	0.26277
NM_000428.3(LTBP2):c.-232G>A	rs61980926	0.06690
NM_000428.3(LTBP2):c.1287G>A (p.Leu429=)	rs61738025	0.06415
NM_000428.3(LTBP2):c.956C>A (p.Pro319Gln)	rs2304707	0.06364
NM_000428.3(LTBP2):c.2788+13C>T	rs78258030	0.03459
NM_000428.3(LTBP2):c.*1957A>G	rs73296215	0.03184
NM_000428.3(LTBP2):c.4782G>A (p.Val1594=)	rs2079631	0.02179
NM_000428.3(LTBP2):c.3262G>A (p.Gly1088Ser)	rs61505039	0.01509
NM_000428.3(LTBP2):c.4888+18G>A	rs73296217	0.01044
NM_000428.3(LTBP2):c.3333G>A (p.Thr1111=)	rs61729544	0.00645
NM_000428.3(LTBP2):c.785C>T (p.Pro262Leu)	rs143106228	0.00232

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.