List of variants reported as uncertain significance for Amyotrophic lateral sclerosis type 12 by Illumina Laboratory Services, Illumina

Minimum submission review status:		Collection method:
Minimum conflict level: Report conflict between different conditions
Show significances as they were submitted (without aggregation into standard terms)
		ClinVar version:

Total variants: 41

Download table as spreadsheet

HGVS	dbSNP	gnomAD frequency
NM_001008212.2(OPTN):c.*1063C>A	rs530046832	0.00131
NM_001008212.2(OPTN):c.489A>G (p.Glu163=)	rs113811959	0.00108
NM_001008212.2(OPTN):c.-250C>A	rs886046818	0.00088
NM_001008212.2(OPTN):c.*461G>A	rs541250740	0.00081
NM_001008212.2(OPTN):c.*1285T>C	rs560947786	0.00057
NM_001008212.2(OPTN):c.*1385T>C	rs546352206	0.00017
NM_001008212.2(OPTN):c.*218G>C	rs886046824	0.00006
NM_001008212.2(OPTN):c.*413G>A	rs886046825	0.00006
NM_001008212.2(OPTN):c.573A>G (p.Ser191=)	rs773095721	0.00006
NM_001008212.2(OPTN):c.*1089G>A	rs758812707	0.00005
NM_001008212.2(OPTN):c.-172G>A	rs1453573477	0.00005
NM_001008212.2(OPTN):c.*1251C>G	rs542617940	0.00004
NM_001008212.2(OPTN):c.1442C>T (p.Ala481Val)	rs377219791	0.00004
NM_001008212.2(OPTN):c.425A>C (p.Gln142Pro)	rs757411888	0.00004
NM_001008212.2(OPTN):c.1569G>A (p.Ala523=)	rs771316696	0.00003
NM_001008212.2(OPTN):c.812G>A (p.Arg271His)	rs201896586	0.00003
NM_001008212.2(OPTN):c.*1111A>C	rs962236225	0.00001
NM_001008212.2(OPTN):c.*222G>C	rs1451563043	0.00001
NM_001008212.2(OPTN):c.*306G>A	rs538280633	0.00001
NM_001008212.2(OPTN):c.*335C>T	rs1251482519	0.00001
NM_001008212.2(OPTN):c.-272G>T	rs886046817	0.00001
NM_001008212.2(OPTN):c.1633C>T (p.Arg545Trp)	rs774245711	0.00001
NM_001008212.2(OPTN):c.247C>T (p.Arg83Cys)	rs756622651	0.00001
NM_001008212.2(OPTN):c.398G>A (p.Arg133Lys)	rs1269604352	0.00001
NM_001008212.2(OPTN):c.444G>A (p.Val148=)	rs780011442	0.00001
NM_001008212.2(OPTN):c.867G>C (p.Glu289Asp)	rs143727251	0.00001
NM_001008212.2(OPTN):c.*1042T>G	rs886046827
NM_001008212.2(OPTN):c.*386C>A	rs745564491
NM_001008212.2(OPTN):c.*631A>G	rs1833724733
NM_001008212.2(OPTN):c.*938C>G	rs886046826
NM_001008212.2(OPTN):c.-184C>G	rs955585590
NM_001008212.2(OPTN):c.-9A>G	rs779282676
NM_001008212.2(OPTN):c.1243-9C>A	rs1833497674
NM_001008212.2(OPTN):c.1427A>G (p.His476Arg)	rs886046821
NM_001008212.2(OPTN):c.17T>G (p.Leu6Arg)	rs1832936570
NM_001008212.2(OPTN):c.359G>A (p.Arg120Lys)	rs1832971194
NM_001008212.2(OPTN):c.403G>T (p.Glu135Ter)	rs140599944
NM_001008212.2(OPTN):c.441G>A (p.Val147=)	rs886046819
NM_001008212.2(OPTN):c.961A>T (p.Ser321Cys)	rs886046820
NM_021980.4(OPTN):c.-187G>T	rs553169923
NM_021980.4(OPTN):c.-232G>T	rs886046816

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.