List of variants in gene OCA2 reported as likely pathogenic by Genome-Nilou Lab

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_000275.3(OCA2):c.1103C>T (p.Ala368Val)	rs61745150	0.00078
NM_000275.3(OCA2):c.593C>T (p.Pro198Leu)	rs183487020	0.00035
NM_000275.3(OCA2):c.1211C>T (p.Thr404Met)	rs144812594	0.00023
NM_000275.3(OCA2):c.2339G>A (p.Gly780Asp)	rs141949212	0.00021
NM_000275.3(OCA2):c.1503+5G>A	rs368124046	0.00008
NM_000275.3(OCA2):c.2037G>C (p.Trp679Cys)	rs121918169	0.00007
NM_000275.3(OCA2):c.632C>T (p.Pro211Leu)	rs190612616	0.00006
NM_000275.3(OCA2):c.2363C>T (p.Ser788Leu)	rs147736385	0.00005
NM_000275.3(OCA2):c.2360C>T (p.Ala787Val)	rs200457227	0.00004
NM_000275.3(OCA2):c.2201T>G (p.Leu734Arg)	rs768934658	0.00001
NM_000275.3(OCA2):c.1000G>A (p.Ala334Thr)	rs1456118236
NM_000275.3(OCA2):c.1860G>C (p.Gly620=)	rs2140619474
NM_000275.3(OCA2):c.619_636del (p.Leu207_Leu212del)	rs767489236

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.