List of variants in gene CNGB3 reported by Blueprint Genetics

Minimum submission review status:		Collection method:
Minimum conflict level: Report conflict between different conditions
Gene type: Distinguish antisense genes from sense genes
		ClinVar version:

Total variants: 13

Download table as spreadsheet

HGVS	dbSNP	gnomAD frequency
NM_019098.5(CNGB3):c.1148del (p.Thr383fs)	rs397515360	0.00183
NM_019098.5(CNGB3):c.503C>T (p.Thr168Met)	rs755130011	0.00009
NM_019098.5(CNGB3):c.1006G>T (p.Glu336Ter)	rs373862340	0.00007
NM_019098.5(CNGB3):c.129G>C (p.Gln43His)	rs773587353	0.00003
NM_019098.5(CNGB3):c.607C>T (p.Arg203Ter)	rs267606739	0.00003
NM_019098.5(CNGB3):c.1432C>T (p.Arg478Ter)	rs201320564	0.00002
NM_019098.5(CNGB3):c.1119G>A (p.Trp373Ter)	rs786204762
NM_019098.5(CNGB3):c.1197T>G (p.Tyr399Ter)	rs1822989898
NM_019098.5(CNGB3):c.1255G>A (p.Glu419Lys)	rs372302139
NM_019098.5(CNGB3):c.1579-2A>G	rs772725807
NM_019098.5(CNGB3):c.1781+1G>C	rs1375507464
NM_019098.5(CNGB3):c.819_826del (p.Arg274fs)	rs775796581
NM_019098.5(CNGB3):c.991-3T>G	rs773372519

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.