ClinVar Miner

List of variants in gene CNGB3 studied for Stargardt Disease, Recessive

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Total variants: 6
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HGVS dbSNP gnomAD frequency
NM_019098.4(CNGB3):c.*1881T>C rs990193 0.91428
NM_019098.5(CNGB3):c.*909_*910del rs3217489 0.08432
NM_019098.5(CNGB3):c.241G>A (p.Asp81Asn) rs148834016 0.00001
NM_019098.5(CNGB3):c.212-6del rs745969238
NM_019098.5(CNGB3):c.339-10dup rs200792506
NM_019098.5(CNGB3):c.494-11dup rs36008065

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