ClinVar Miner

List of variants in gene CNGB3 reported as likely benign for achromatopsia

Included ClinVar conditions (11):
Minimum submission review status: Collection method:
Minimum conflict level:
Gene type:
ClinVar version:
Total variants: 17
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HGVS dbSNP
NM_019098.4(CNGB3):c.*1303G>A rs17683284
NM_019098.4(CNGB3):c.*1638G>A rs28471019
NM_019098.4(CNGB3):c.*389A>C rs16915861
NM_019098.4(CNGB3):c.*735A>G rs73269601
NM_019098.4(CNGB3):c.*778T>C rs16915859
NM_019098.4(CNGB3):c.*909_*910del rs3217489
NM_019098.4(CNGB3):c.-36T>G rs7812496
NM_019098.4(CNGB3):c.1356G>A (p.Gln452=) rs34839859
NM_019098.4(CNGB3):c.1781+10A>T rs7000747
NM_019098.4(CNGB3):c.211+13T>G rs66881636
NM_019098.4(CNGB3):c.2214A>G (p.Glu738=) rs3735970
NM_019098.4(CNGB3):c.2264A>G (p.Glu755Gly) rs3735972
NM_019098.4(CNGB3):c.494-11T>C rs543970676
NM_019098.4(CNGB3):c.494-21dup rs36008065
NM_019098.4(CNGB3):c.595G>A (p.Glu199Lys) rs114305748
NM_019098.4(CNGB3):c.608G>A (p.Arg203Gln) rs16916632
NM_019098.4(CNGB3):c.919A>G (p.Ile307Val) rs13265557

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