ClinVar Miner

List of variants reported as pathogenic for amyotrophic lateral sclerosis type 12 by Invitae

Included ClinVar conditions (3):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 38
Download table as spreadsheet
HGVS dbSNP gnomAD frequency
NM_001008212.2(OPTN):c.127C>T (p.Gln43Ter) rs934287314 0.00006
NM_001008212.2(OPTN):c.381_382insAG (p.Asp128fs) rs774258585 0.00004
NM_001008212.2(OPTN):c.785C>A (p.Ser262Ter) rs750571210 0.00001
NC_000010.10:g.(?_12833157)_(13178866_?)del
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.(?_13109103)_(13136886_?)del
NC_000010.11:g.(?_13109113)_(13112645_?)del
NC_000010.11:g.(?_13109123)_(13183100_?)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.1195G>T (p.Glu399Ter)
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.1552C>T (p.Gln518Ter)
NM_001008212.2(OPTN):c.158_161dup (p.Lys55fs) rs1564354968
NM_001008212.2(OPTN):c.235C>T (p.Gln79Ter)
NM_001008212.2(OPTN):c.241G>T (p.Glu81Ter)
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.76del (p.His26fs) rs753966040
NM_001008212.2(OPTN):c.76dup (p.His26fs) rs753966040
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.