ClinVar Miner

List of variants reported as uncertain significance for achromatopsia 3 by Counsyl

Included ClinVar conditions (2):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 8
Download table as spreadsheet
NM_019098.4(CNGB3):c.1405T>G (p.Tyr469Asp) rs35365413
NM_019098.4(CNGB3):c.1672G>T (p.Gly558Cys) rs749413012
NM_019098.4(CNGB3):c.1673G>T (p.Gly558Val) rs1262707163
NM_019098.4(CNGB3):c.1783C>T (p.Leu595Phe) rs1554604849
NM_019098.4(CNGB3):c.2101C>T (p.Gln701Ter) rs1554604769
NM_019098.4(CNGB3):c.2301_2304dup (p.Ser769fs) rs199570140
NM_019098.4(CNGB3):c.2383G>A (p.Gly795Arg) rs753083465
NM_019098.4(CNGB3):c.467C>T (p.Ser156Phe) rs139207764

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.