ClinVar Miner

List of variants in gene CNGB3 reported as likely benign for achromatopsia 3

Included ClinVar conditions (2):
Minimum submission review status: Collection method:
Minimum conflict level:
Gene type:
ClinVar version:
Total variants: 10
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HGVS dbSNP
NM_019098.4(CNGB3):c.*125G>C rs186370374
NM_019098.4(CNGB3):c.*621G>A rs116835980
NM_019098.4(CNGB3):c.1208G>A rs147876778
NM_019098.4(CNGB3):c.1626C>T (p.Ser542=) rs35903042
NM_019098.4(CNGB3):c.212-3T>C rs79126074
NM_019098.4(CNGB3):c.2415A>C (p.Glu805Asp) rs186448979
NM_019098.4(CNGB3):c.319G>A (p.Gly107Arg) rs146688972
NM_019098.4(CNGB3):c.595G>A (p.Glu199Lys) rs114305748
NM_019098.4(CNGB3):c.80A>G (p.Asn27Ser) rs35807406
NM_019098.4(CNGB3):c.912C>T (p.Val304=) rs117806701

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