ClinVar Miner

List of variants in gene NYX reported as uncertain significance for congenital stationary night blindness

Included ClinVar conditions (26):
Minimum submission review status: Collection method:
Minimum conflict level:
Gene type:
ClinVar version:
Total variants: 20
Download table as spreadsheet
HGVS dbSNP gnomAD frequency
NM_001378477.3(NYX):c.*103G>A rs750048192 0.00105
NM_001378477.3(NYX):c.567C>A (p.Ile189=) rs746383908 0.00081
NM_001378477.3(NYX):c.-57+46T>C rs777981530 0.00044
NM_001378477.3(NYX):c.*383G>T rs148699627 0.00040
NM_001378477.3(NYX):c.*140G>A rs1011570912 0.00006
NM_001378477.3(NYX):c.-57+99T>C rs945750526 0.00005
NM_001378477.3(NYX):c.368C>T (p.Ala123Val) rs778437203 0.00005
NM_001378477.3(NYX):c.-56-45T>G rs755997910 0.00003
NM_001378477.3(NYX):c.787C>G (p.Arg263Gly) rs375834225 0.00003
NM_001378477.3(NYX):c.*744C>T rs780639009 0.00002
NM_001378477.3(NYX):c.*157C>G rs1057515884
NM_001378477.3(NYX):c.*16del rs762960396
NM_001378477.3(NYX):c.*72T>C rs1057515883
NM_001378477.3(NYX):c.*734_*735dup rs201620180
NM_001378477.3(NYX):c.148C>T (p.Arg50Trp) rs1287556040
NM_001378477.3(NYX):c.22+5G>A
NM_001378477.3(NYX):c.371_372dup (p.Thr125fs) rs2147025534
NM_001378477.3(NYX):c.467T>C (p.Leu156Pro) rs1245924306
NM_001378477.3(NYX):c.645C>G (p.Ala215=) rs924692905
NM_001378477.3(NYX):c.722C>T (p.Pro241Leu) rs763017414

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.