ClinVar Miner

List of variants in gene OPTN reported as uncertain significance for Primary open angle glaucoma

Minimum submission review status: Collection method:
Minimum conflict level:
Gene type:
ClinVar version:
Total variants: 31
Download table as spreadsheet
HGVS dbSNP
NM_001008211.1(OPTN):c.-408G>T
NM_001008211.1(OPTN):c.-453G>T rs886046816
NM_001008212.2(OPTN):c.*1042T>G rs886046827
NM_001008212.2(OPTN):c.*1063C>A rs530046832
NM_001008212.2(OPTN):c.*1089G>A rs758812707
NM_001008212.2(OPTN):c.*1111A>C
NM_001008212.2(OPTN):c.*1285T>C rs560947786
NM_001008212.2(OPTN):c.*1385T>C rs546352206
NM_001008212.2(OPTN):c.*152G>T rs886046823
NM_001008212.2(OPTN):c.*218G>C rs886046824
NM_001008212.2(OPTN):c.*222G>C
NM_001008212.2(OPTN):c.*306G>A rs538280633
NM_001008212.2(OPTN):c.*335C>T
NM_001008212.2(OPTN):c.*386C>A rs745564491
NM_001008212.2(OPTN):c.*413G>A rs886046825
NM_001008212.2(OPTN):c.*461G>A rs541250740
NM_001008212.2(OPTN):c.*631A>G
NM_001008212.2(OPTN):c.*938C>G rs886046826
NM_001008212.2(OPTN):c.-172G>A
NM_001008212.2(OPTN):c.-184C>G
NM_001008212.2(OPTN):c.-250C>A rs886046818
NM_001008212.2(OPTN):c.-272G>T rs886046817
NM_001008212.2(OPTN):c.1243-13G>A rs374144660
NM_001008212.2(OPTN):c.1243-9C>A
NM_001008212.2(OPTN):c.1427A>G (p.His476Arg) rs886046821
NM_001008212.2(OPTN):c.1442C>T (p.Ala481Val) rs377219791
NM_001008212.2(OPTN):c.1634G>A (p.Arg545Gln) rs75654767
NM_001008212.2(OPTN):c.398G>A (p.Arg133Lys)
NM_001008212.2(OPTN):c.425A>C (p.Gln142Pro) rs757411888
NM_001008212.2(OPTN):c.441G>A (p.Val147=) rs886046819
NM_001008212.2(OPTN):c.961A>T (p.Ser321Cys) rs886046820

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.