ClinVar Miner

List of variants reported as benign for amyotrophic lateral sclerosis type 12 by Illumina Laboratory Services, Illumina

Included ClinVar conditions (3):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 15
Download table as spreadsheet
HGVS dbSNP gnomAD frequency
NM_001008212.2(OPTN):c.553-5C>T rs2244380 0.80823
NM_021980.4(OPTN):c.-161T>C rs71492279 0.36888
NM_001008212.2(OPTN):c.102G>A (p.Thr34=) rs2234968 0.19474
NM_001008212.2(OPTN):c.-215G>A rs11548142 0.18691
NM_001008212.2(OPTN):c.293T>A (p.Met98Lys) rs11258194 0.05969
NM_001008212.2(OPTN):c.*269C>T rs111484304 0.01294
NM_001008212.2(OPTN):c.-255C>G rs2580915 0.01192
NM_001008212.2(OPTN):c.627-10T>C rs80327830 0.00853
NM_001008212.2(OPTN):c.123G>A (p.Leu41=) rs11591687 0.00729
NM_001008212.2(OPTN):c.963C>T (p.Ser321=) rs150381274 0.00525
NM_001008212.2(OPTN):c.553-10G>A rs11258210 0.00492
NM_001008212.2(OPTN):c.1612+10G>A rs191671333 0.00053
NM_001008212.2(OPTN):c.-274C>A rs552494483 0.00001
NM_001008212.2(OPTN):c.402C>A (p.Ala134=) rs113955718
NM_021980.4(OPTN):c.-227G>T rs3814657

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.