ClinVar Miner

List of variants reported as uncertain significance for achromatopsia 3 by Molecular Genetics Laboratory,Institute for Ophthalmic Research

Included ClinVar conditions (2):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 6
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NM_019098.4(CNGB3):c.1056-3C>G rs1554611763
NM_019098.4(CNGB3):c.1190_1192del (p.Cys397del) rs765574129
NM_019098.4(CNGB3):c.1320+4A>G rs1026427970
NM_019098.4(CNGB3):c.1397T>C (p.Met466Thr) rs35010099
NM_019098.4(CNGB3):c.1673G>T (p.Gly558Val) rs1262707163
NM_019098.4(CNGB3):c.2103G>C (p.Gln701His) rs770214046

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