ClinVar Miner

Variants in gene CNGA3 with conflicting interpretations "likely benign" and "benign"

Submission 1 (likely benign) minimum review status: Submission 1 (likely benign) method:
Submission 2 (benign) minimum review status: Submission 2 (benign) method:
Gene type:
ClinVar version:
Total variants with conflicting interpretations: 10
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HGVS dbSNP gnomAD frequency
NM_001298.3(CNGA3):c.592G>A (p.Glu198Lys) rs2271041 0.01071
NM_001298.3(CNGA3):c.458C>T (p.Thr153Met) rs34314205 0.00818
NM_001298.3(CNGA3):c.1569C>T (p.Asn523=) rs61752503 0.00430
NM_001298.3(CNGA3):c.143C>T (p.Pro48Leu) rs62156348 0.00427
NM_001298.3(CNGA3):c.396-4G>A rs114951127 0.00360
NM_001298.3(CNGA3):c.198C>T (p.Thr66=) rs139544302 0.00139
NM_001298.3(CNGA3):c.1767C>T (p.Thr589=) rs137950660 0.00102
NM_001298.3(CNGA3):c.682G>A (p.Glu228Lys) rs147415641 0.00049
NM_001298.3(CNGA3):c.1863G>A (p.Ala621=) rs181911949 0.00041
NM_001298.3(CNGA3):c.1101T>C (p.Gly367=) rs200069389 0.00032

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