ClinVar Miner

Variants in gene CNGB3 with conflicting interpretations "likely benign" and "benign"

Submission 1 (likely benign) minimum review status: Submission 1 (likely benign) method:
Submission 2 (benign) minimum review status: Submission 2 (benign) method:
Gene type:
ClinVar version:
Total variants with conflicting interpretations: 7
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HGVS dbSNP
NM_019098.4(CNGB3):c.1208G>A rs147876778
NM_019098.4(CNGB3):c.1405T>G (p.Tyr469Asp) rs35365413
NM_019098.4(CNGB3):c.2415A>C (p.Glu805Asp) rs186448979
NM_019098.4(CNGB3):c.339-17dup rs200792506
NM_019098.4(CNGB3):c.354G>T (p.Pro118=) rs75858066
NM_019098.4(CNGB3):c.494-21dup rs36008065
NM_019098.4(CNGB3):c.912C>T (p.Val304=) rs117806701

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