ClinVar Miner

List of variants in gene OPTN reported as pathogenic for amyotrophic lateral sclerosis type 12

Included ClinVar conditions (3):
Minimum submission review status: Collection method:
Minimum conflict level:
Gene type:
ClinVar version:
Total variants: 33
Download table as spreadsheet
HGVS dbSNP gnomAD frequency
NM_001008212.2(OPTN):c.381_382insAG (p.Asp128fs) rs774258585 0.00004
NM_001008212.2(OPTN):c.1546G>C (p.Glu516Gln) rs757107215 0.00002
NM_001008212.2(OPTN):c.785C>A (p.Ser262Ter) rs750571210 0.00001
NC_000010.10:g.(?_13151123)_(13158360_?)del
NC_000010.10:g.(?_13151123)_(13178866_?)del
NC_000010.10:g.(?_13152254)_(13161060_?)del
NC_000010.10:g.(?_13154433)_(13161060_?)del
NC_000010.10:g.(?_13158247)_(13158360_?)del
NC_000010.10:g.(?_13164365)_(13168059_?)del
NC_000010.11:g.(?_13109113)_(13112645_?)del
NC_000010.11:g.(?_13116257)_(13116350_?)del
NC_000010.11:g.13122383AG[1] rs757559365
NM_001008212.2(OPTN):c.1078_1079del (p.Lys360fs) rs1833438306
NM_001008212.2(OPTN):c.1103del (p.Met368fs)
NM_001008212.2(OPTN):c.1192C>T (p.Gln398Ter) rs267606928
NM_001008212.2(OPTN):c.1195G>T (p.Glu399Ter)
NM_001008212.2(OPTN):c.1217del (p.Thr406fs) rs1833451208
NM_001008212.2(OPTN):c.1241_1242del (p.Glu414fs) rs774772178
NM_001008212.2(OPTN):c.1289_1290del (p.Leu430fs)
NM_001008212.2(OPTN):c.1304dup (p.Ala436fs) rs1588449569
NM_001008212.2(OPTN):c.1318_1334dup (p.Asp445fs)
NM_001008212.2(OPTN):c.1433A>G (p.Glu478Gly) rs267606929
NM_001008212.2(OPTN):c.1552C>T (p.Gln518Ter)
NM_001008212.2(OPTN):c.403G>T (p.Glu135Ter) rs140599944
NM_001008212.2(OPTN):c.419_420insTC (p.Lys140fs)
NM_001008212.2(OPTN):c.450dup (p.Gln151fs)
NM_001008212.2(OPTN):c.493C>T (p.Gln165Ter)
NM_001008212.2(OPTN):c.523del (p.Glu175fs)
NM_001008212.2(OPTN):c.649A>T (p.Arg217Ter)
NM_001008212.2(OPTN):c.666del (p.Lys223fs)
NM_001008212.2(OPTN):c.703C>T (p.Gln235Ter)
NM_001008212.2(OPTN):c.918_922del (p.Thr307fs) rs786205611
NM_001008212.2(OPTN):c.986_990del (p.Arg329fs) rs778911925

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.