ClinVar Miner

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

Included ClinVar conditions (13):
Minimum submission review status: Collection method:
Minimum conflict level:
Gene type:
ClinVar version:
Total variants: 9
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HGVS dbSNP gnomAD frequency
NM_001298.2(CNGA3):c.*1351T>G rs28376087 0.03691
NM_001298.3(CNGA3):c.215+11A>G rs199755395 0.00490
NM_001298.3(CNGA3):c.143C>T (p.Pro48Leu) rs62156348 0.00451
NM_001298.3(CNGA3):c.396-4G>A rs114951127 0.00360
NM_001298.3(CNGA3):c.740C>T (p.Thr247Met) rs148616345 0.00158
NM_001298.3(CNGA3):c.198C>T (p.Thr66=) rs139544302 0.00147
NM_001298.3(CNGA3):c.1746C>T (p.Asp582=) rs77311157 0.00023
NM_001298.2(CNGA3):c.-406C>T rs529394802 0.00012
NM_001298.3(CNGA3):c.59C>T (p.Thr20Ile) rs143489966 0.00002

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