ClinVar Miner

List of variants reported as likely benign for achromatopsia 3 by Illumina Laboratory Services, Illumina

Included ClinVar conditions (3):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 9
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HGVS dbSNP gnomAD frequency
NM_019098.5(CNGB3):c.595G>A (p.Glu199Lys) rs114305748 0.01886
NM_019098.5(CNGB3):c.80A>G (p.Asn27Ser) rs35807406 0.01728
NM_019098.5(CNGB3):c.1626C>T (p.Ser542=) rs35903042 0.00786
NM_019098.5(CNGB3):c.*621G>A rs116835980 0.00669
NM_019098.5(CNGB3):c.212-3T>C rs79126074 0.00635
NM_019098.5(CNGB3):c.*125G>C rs186370374 0.00087
NM_019098.5(CNGB3):c.319G>A (p.Gly107Arg) rs146688972 0.00057
NM_019098.5(CNGB3):c.912C>T (p.Val304=) rs117806701 0.00029
NM_019098.5(CNGB3):c.2415A>C (p.Glu805Asp) rs186448979 0.00025

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