ClinVar Miner

List of variants in gene CNGA3 reported by Eurofins NTD LLC (GA)

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Total variants: 25
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HGVS dbSNP gnomAD frequency
NM_001298.3(CNGA3):c.458C>T (p.Thr153Met) rs34314205 0.00836
NM_001298.3(CNGA3):c.1569C>T (p.Asn523=) rs61752503 0.00467
NM_001298.3(CNGA3):c.143C>T (p.Pro48Leu) rs62156348 0.00451
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.1618G>A (p.Val540Ile) rs116448158 0.00113
NM_001298.3(CNGA3):c.284C>T (p.Pro95Leu) rs114108462 0.00083
NM_001298.3(CNGA3):c.682G>A (p.Glu228Lys) rs147415641 0.00049
NM_001298.3(CNGA3):c.1279C>T (p.Arg427Cys) rs141386891 0.00036
NM_001298.3(CNGA3):c.967G>C (p.Ala323Pro) rs146195955 0.00033
NM_001298.3(CNGA3):c.508C>T (p.Arg170Cys) rs200542032 0.00022
NM_001298.3(CNGA3):c.811C>G (p.Pro271Ala) rs149802213 0.00022
NM_001298.3(CNGA3):c.1034A>G (p.His345Arg) rs780411290 0.00011
NM_001298.3(CNGA3):c.667C>T (p.Arg223Trp) rs138958917 0.00008
NM_001298.3(CNGA3):c.1557G>A (p.Met519Ile) rs199655686 0.00004
NM_001298.3(CNGA3):c.1687C>T (p.Arg563Cys) rs150153987 0.00004
NM_001298.3(CNGA3):c.577G>A (p.Asp193Asn) rs375673700 0.00003
NM_001298.3(CNGA3):c.868C>T (p.Arg290Cys) rs367597798 0.00002
NM_001298.3(CNGA3):c.1831C>T (p.Leu611=) rs747855074 0.00001
NM_001298.3(CNGA3):c.111_113del (p.Ser39del) rs755957184
NM_001298.3(CNGA3):c.1320del (p.Trp440fs) rs1553450762
NM_001298.3(CNGA3):c.1595A>T (p.Asp532Val) rs1558820799
NM_001298.3(CNGA3):c.1597G>C (p.Asp533His) rs775332304
NM_001298.3(CNGA3):c.1712T>C (p.Ile571Thr) rs750456621
NM_001298.3(CNGA3):c.1978C>T (p.Gln660Ter) rs1553450979

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