ClinVar Miner

List of variants in gene CNGA3 reported as likely benign for achromatopsia

Included ClinVar conditions (11):
Minimum submission review status: Collection method:
Minimum conflict level:
Gene type:
ClinVar version:
Total variants: 6
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HGVS dbSNP
NM_001079878.2(CNGA3):c.*574C>T rs13429817
NM_001079878.2(CNGA3):c.*838T>C rs13395005
NM_001079878.2(CNGA3):c.1572C>T (p.Ser524=) rs78583671
NM_001079878.2(CNGA3):c.72T>C (p.Asp24=) rs6727412
NM_001298.2(CNGA3):c.*1351T>G rs28376087
NM_001298.2(CNGA3):c.-286C>T rs13408372

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