ClinVar Miner

List of variants in gene NMNAT1 studied for Leber congenital amaurosis

Included ClinVar conditions (38):
Minimum submission review status: Collection method:
Minimum conflict level:
Gene type:
ClinVar version:
Total variants: 18
Download table as spreadsheet
HGVS dbSNP
NC_000001.11:g.(?_9981011)_(9982721_?)del
NM_022787.3(NMNAT1):c.115+3A>G rs181504239
NM_022787.3(NMNAT1):c.155G>T (p.Gly52Val) rs768528387
NM_022787.3(NMNAT1):c.25G>A (p.Val9Met) rs387907294
NM_022787.3(NMNAT1):c.451G>T (p.Val151Phe) rs387907292
NM_022787.3(NMNAT1):c.457C>G (p.Leu153Val) rs387907293
NM_022787.3(NMNAT1):c.485C>A (p.Ser162Tyr) rs1553128102
NM_022787.3(NMNAT1):c.507G>A (p.Trp169Ter) rs371526758
NM_022787.3(NMNAT1):c.619C>T (p.Arg207Trp) rs142968179
NM_022787.3(NMNAT1):c.661dup (p.Ile221Asnfs) rs775978677
NM_022787.3(NMNAT1):c.710G>T (p.Arg237Leu) rs368062092
NM_022787.3(NMNAT1):c.716T>C (p.Leu239Ser) rs778606847
NM_022787.3(NMNAT1):c.736G>C (p.Glu246Gln) rs747653875
NM_022787.3(NMNAT1):c.769G>A (p.Glu257Lys) rs150726175
NM_022787.3(NMNAT1):c.817A>G (p.Asn273Asp) rs387907291
NM_022787.3(NMNAT1):c.827A>C (p.Glu276Ala) rs147220828
NM_022787.3(NMNAT1):c.838T>C (p.Ter280Gln) rs387907290
NM_022787.4(NMNAT1):c.205A>T (p.Met69Leu)

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.