ClinVar Miner

List of variants in gene CNGA3 reported as benign for achromatopsia

Included ClinVar conditions (13):
Minimum submission review status: Collection method:
Minimum conflict level:
Gene type:
ClinVar version:
Total variants: 10
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HGVS dbSNP gnomAD frequency
NM_001298.3(CNGA3):c.72T>C (p.Asp24=) rs6727412 0.13838
NM_001298.3(CNGA3):c.*838T>C rs13395005 0.06587
NM_001298.2(CNGA3):c.-286C>T rs13408372 0.06490
NM_001298.3(CNGA3):c.*574C>T rs13429817 0.03505
NM_001298.3(CNGA3):c.592G>A (p.Glu198Lys) rs2271041 0.01129
NM_001298.3(CNGA3):c.458C>T (p.Thr153Met) rs34314205 0.00836
NM_001298.3(CNGA3):c.353A>G (p.Gln118Arg) rs142837782 0.00305
NM_001298.3(CNGA3):c.1626C>T (p.Ser542=) rs78583671 0.00275
NM_001298.3(CNGA3):c.102-16A>G rs2279859
NM_001298.3(CNGA3):c.215+151T>C rs937725

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