ClinVar Miner

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

Submission 1 (uncertain significance) minimum review status: Submission 1 (uncertain significance) method:
Submission 2 (likely benign) minimum review status: Submission 2 (likely benign) method:
Gene type:
ClinVar version:
Total variants with conflicting interpretations: 7
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HGVS dbSNP
NM_019098.4(CNGB3):c.1439G>A (p.Arg480Gln) rs77277189
NM_019098.4(CNGB3):c.1833C>T (p.His611=) rs368787128
NM_019098.4(CNGB3):c.1898A>G (p.Asp633Gly) rs139337746
NM_019098.4(CNGB3):c.2308G>T (p.Val770Phe) rs78239264
NM_019098.4(CNGB3):c.339-17dup rs200792506
NM_019098.4(CNGB3):c.474C>T (p.Pro158=) rs151230930
NM_019098.4(CNGB3):c.913G>A (p.Ala305Thr) rs144637286

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