ClinVar Miner

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

Included ClinVar conditions (11):
Minimum submission review status: Collection method:
Minimum conflict level:
Gene type:
ClinVar version:
Total variants: 15
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HGVS dbSNP
NM_001079878.2(CNGA3):c.-37-1G>C rs1553447991
NM_001079878.2(CNGA3):c.101+1G>A rs147118493
NM_001079878.2(CNGA3):c.1252C>T (p.Arg418Trp) rs104893621
NM_001079878.2(CNGA3):c.130_151dup (p.Ala51fs) rs1558811557
NM_001079878.2(CNGA3):c.1564G>A (p.Val522Ile) rs116448158
NM_001079878.2(CNGA3):c.628G>A (p.Glu210Lys) rs147415641
NM_001079878.2(CNGA3):c.757C>G (p.Pro253Ala) rs149802213
NM_001079878.2(CNGA3):c.794G>A (p.Arg265Gln) rs104893614
NM_001079878.2(CNGA3):c.815G>A (p.Arg272His) rs199837807
NM_001079878.2(CNGA3):c.880_882ATC[2] (p.Ile296del)
NM_001298.3(CNGA3):c.1085C>T (p.Thr362Ile)
NM_001298.3(CNGA3):c.1642G>A (p.Gly548Arg)
NM_001298.3(CNGA3):c.589T>C (p.Ser197Pro)
NM_001298.3(CNGA3):c.778G>A (p.Asp260Asn)
NM_001298.3(CNGA3):c.904A>G (p.Arg302Gly)

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