ClinVar Miner

Variants in gene CNGA3 with conflicting interpretations "uncertain significance" and "likely pathogenic"

Submission 1 (uncertain significance) minimum review status: Submission 1 (uncertain significance) method:
Submission 2 (likely pathogenic) minimum review status: Submission 2 (likely pathogenic) method:
Gene type:
ClinVar version:
Total variants with conflicting interpretations: 10
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HGVS dbSNP gnomAD frequency
NM_001298.3(CNGA3):c.811C>G (p.Pro271Ala) rs149802213 0.00022
NM_001298.3(CNGA3):c.101+1G>A rs147118493 0.00014
NM_001298.3(CNGA3):c.1557G>A (p.Met519Ile) rs199655686 0.00004
NM_001298.3(CNGA3):c.983T>C (p.Ile328Thr) rs752170364 0.00001
NM_001298.3(CNGA3):c.-37-1G>C rs1553447991
NM_001298.3(CNGA3):c.1229G>T (p.Arg410Leu)
NM_001298.3(CNGA3):c.1307G>A (p.Arg436Gln)
NM_001298.3(CNGA3):c.1520A>G (p.Asp507Gly) rs778000601
NM_001298.3(CNGA3):c.479T>G (p.Val160Gly) rs201713771
NM_001298.3(CNGA3):c.827A>G (p.Asn276Ser) rs199474697

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