ClinVar Miner

List of variants in gene CNGB3 reported as pathogenic for Achromatopsia

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Total variants: 25
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HGVS dbSNP gnomAD frequency
NM_019098.5(CNGB3):c.1148del (p.Thr383fs) rs397515360 0.00183
NM_019098.5(CNGB3):c.1208G>A (p.Arg403Gln) rs147876778 0.00119
NM_019098.5(CNGB3):c.1006G>T (p.Glu336Ter) rs373862340 0.00007
NM_019098.5(CNGB3):c.607C>T (p.Arg203Ter) rs267606739 0.00003
NM_019098.5(CNGB3):c.1432C>T (p.Arg478Ter) rs201320564 0.00002
NM_019098.5(CNGB3):c.1578+1G>A rs372006750 0.00002
NM_019098.5(CNGB3):c.1663-1205G>A rs1000861056 0.00002
NM_019098.5(CNGB3):c.646C>T (p.Arg216Ter) rs768345097 0.00002
NM_019098.5(CNGB3):c.1063C>T (p.Arg355Ter) rs764742792 0.00001
NM_019098.5(CNGB3):c.1207C>T (p.Arg403Ter) rs770786127 0.00001
NM_019098.5(CNGB3):c.1810C>T (p.Arg604Ter) rs200805087 0.00001
NM_019098.5(CNGB3):c.644-1G>C rs201794629 0.00001
NM_019098.5(CNGB3):c.1055+1G>C rs1823261605
NM_019098.5(CNGB3):c.105_114del (p.Gln36fs) rs1586047969
NM_019098.5(CNGB3):c.112C>T (p.Gln38Ter) rs786204498
NM_019098.5(CNGB3):c.1190_1192del (p.Cys397del) rs765574129
NM_019098.5(CNGB3):c.1285dup (p.Ser429fs) rs776896038
NM_019098.5(CNGB3):c.1578+1G>T rs372006750
NM_019098.5(CNGB3):c.1579-1G>A rs1057516504
NM_019098.5(CNGB3):c.1663-2137C>T rs998703203
NM_019098.5(CNGB3):c.1781+1del rs1554607546
NM_019098.5(CNGB3):c.2328del (p.Arg777fs) rs1585941011
NM_019098.5(CNGB3):c.391C>T (p.Gln131Ter) rs786204492
NM_019098.5(CNGB3):c.819_826del (p.Arg274fs) rs775796581
NM_019098.5(CNGB3):c.819del (p.Arg274fs) rs1586003680

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