ClinVar Miner

List of variants in gene CNGA3 reported by PreventionGenetics, part of Exact Sciences

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Gene type:
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Total variants: 21
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HGVS dbSNP gnomAD frequency
NM_001298.3(CNGA3):c.72T>C (p.Asp24=) rs6727412 0.13838
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.353A>G (p.Gln118Arg) rs142837782 0.00305
NM_001298.3(CNGA3):c.790T>A (p.Leu264Ile) rs73964088 0.00202
NM_001298.3(CNGA3):c.198C>T (p.Thr66=) rs139544302 0.00147
NM_001298.3(CNGA3):c.1627G>A (p.Asp543Asn) rs150759499 0.00119
NM_001298.3(CNGA3):c.566+6C>T rs199558955 0.00080
NM_001298.3(CNGA3):c.1101T>C (p.Gly367=) rs200069389 0.00034
NM_001298.3(CNGA3):c.1116C>T (p.Pro372=) rs201649850 0.00031
NM_001298.3(CNGA3):c.210C>T (p.Ile70=) rs145057274 0.00031
NM_001298.3(CNGA3):c.869G>A (p.Arg290His) rs199837807 0.00018
NM_001298.3(CNGA3):c.1413C>T (p.Asn471=) rs771835849 0.00003
NM_001298.3(CNGA3):c.395+9C>T rs375494943 0.00003
NM_001298.3(CNGA3):c.450-1G>A rs754158805 0.00002
NM_001298.3(CNGA3):c.59C>T (p.Thr20Ile) rs143489966 0.00002
NM_001298.3(CNGA3):c.102-16A>G rs2279859
NM_001298.3(CNGA3):c.1641C>T (p.Phe547=) rs104893617
NM_001298.3(CNGA3):c.2076A>G (p.Lys692=)
NM_001298.3(CNGA3):c.215+46T>G rs58990587
NM_001298.3(CNGA3):c.566+7G>A rs374306710

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