ClinVar Miner

List of variants studied for Achromatopsia 3 by Genome-Nilou Lab

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Total variants: 11
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HGVS dbSNP gnomAD frequency
NM_019098.5(CNGB3):c.702T>G (p.Cys234Trp) rs6471482 0.88912
NM_019098.5(CNGB3):c.892A>C (p.Thr298Pro) rs4961206 0.64246
NM_019098.5(CNGB3):c.852+55C>T rs3735967 0.39180
NM_019098.5(CNGB3):c.1481-145A>C rs13258590 0.33289
NM_019098.5(CNGB3):c.919A>G (p.Ile307Val) rs13265557 0.05793
NM_019098.5(CNGB3):c.1179-38T>C rs3735969 0.05147
NM_019098.5(CNGB3):c.211+13T>G rs66881636 0.04794
NM_019098.5(CNGB3):c.1208G>A (p.Arg403Gln) rs147876778 0.00119
NM_019098.5(CNGB3):c.*125G>C rs186370374 0.00087
NM_019098.4(CNGB3):c.-36T>G rs7812496
NM_019098.5(CNGB3):c.2313_2315del (p.Arg772del) rs758914061

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