List of variants in gene NMNAT1 reported as likely pathogenic for Leber congenital amaurosis

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

Total variants: 28

Download table as spreadsheet

HGVS	dbSNP	gnomAD frequency
NM_022787.4(NMNAT1):c.769G>A (p.Glu257Lys)	rs150726175	0.00087
NM_022787.4(NMNAT1):c.37G>A (p.Ala13Thr)	rs138613460	0.00057
NM_022787.4(NMNAT1):c.293T>G (p.Val98Gly)	rs771336246	0.00011
NM_022787.4(NMNAT1):c.205A>G (p.Met69Val)	rs372066126	0.00002
NM_022787.4(NMNAT1):c.155G>T (p.Gly52Val)	rs768528387	0.00001
NM_022787.4(NMNAT1):c.439G>C (p.Ala147Pro)	rs1570715470	0.00001
NM_022787.4(NMNAT1):c.485C>A (p.Ser162Tyr)	rs1553128102	0.00001
NM_022787.4(NMNAT1):c.532G>A (p.Val178Met)	rs757724544	0.00001
NM_022787.4(NMNAT1):c.53A>G (p.Asn18Ser)	rs748902766	0.00001
NM_022787.4(NMNAT1):c.542A>G (p.Tyr181Cys)	rs748913297	0.00001
NM_022787.4(NMNAT1):c.547C>T (p.Leu183Phe)	rs1337014971	0.00001
NM_022787.4(NMNAT1):c.661dup (p.Ile221fs)	rs775978677	0.00001
NM_022787.4(NMNAT1):c.709C>T (p.Arg237Cys)	rs375110174	0.00001
NM_022787.4(NMNAT1):c.115+1G>A	rs779434083
NM_022787.4(NMNAT1):c.115+1G>C
NM_022787.4(NMNAT1):c.179T>G (p.Leu60Arg)	rs1641789657
NM_022787.4(NMNAT1):c.205A>T (p.Met69Leu)	rs372066126
NM_022787.4(NMNAT1):c.238G>A (p.Val80Met)	rs1641791811
NM_022787.4(NMNAT1):c.244G>T (p.Val82Phe)	rs1641792104
NM_022787.4(NMNAT1):c.38C>A (p.Ala13Asp)	rs1641702737
NM_022787.4(NMNAT1):c.458T>C (p.Leu153Pro)	rs1641966303
NM_022787.4(NMNAT1):c.500A>T (p.Asn167Ile)	rs1405020783
NM_022787.4(NMNAT1):c.518A>G (p.Asp173Gly)	rs1641967500
NM_022787.4(NMNAT1):c.647G>C (p.Trp216Ser)	rs771954272
NM_022787.4(NMNAT1):c.650T>A (p.Ile217Asn)	rs1641971124
NM_022787.4(NMNAT1):c.717G>T (p.Leu239Phe)	rs1641973290
NM_022787.4(NMNAT1):c.736G>C (p.Glu246Gln)	rs747653875
NM_022787.4(NMNAT1):c.752A>C (p.His251Pro)	rs1208495291

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.