ClinVar Miner

List of variants in gene CNGB3 reported as uncertain significance for achromatopsia 3

Included ClinVar conditions (2):
Minimum submission review status: Collection method:
Minimum conflict level:
Gene type:
ClinVar version:
Total variants: 14
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HGVS dbSNP
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.1405T>G (p.Tyr469Asp) rs35365413
NM_019098.4(CNGB3):c.1492T>A (p.Leu498Met) rs115246141
NM_019098.4(CNGB3):c.1672G>T (p.Gly558Cys) rs749413012
NM_019098.4(CNGB3):c.1673G>T (p.Gly558Val) rs1262707163
NM_019098.4(CNGB3):c.1783C>T (p.Leu595Phe) rs1554604849
NM_019098.4(CNGB3):c.2101C>T (p.Gln701Ter) rs1554604769
NM_019098.4(CNGB3):c.2103G>C (p.Gln701His) rs770214046
NM_019098.4(CNGB3):c.2301_2304dup (p.Ser769fs) rs199570140
NM_019098.4(CNGB3):c.2383G>A (p.Gly795Arg) rs753083465
NM_019098.4(CNGB3):c.467C>T (p.Ser156Phe) rs139207764

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