ClinVar Miner

List of variants in gene AKT3, SDCCAG8 studied for Bardet-Biedl syndrome

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Total variants: 4
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HGVS dbSNP gnomAD frequency
NM_005465.7(AKT3):c.*5398_*5402dup rs368945100 0.00273
NM_005465.7(AKT3):c.*5155_*5159dup rs577416381
NM_006642.5(SDCCAG8):c.*214_*217dup rs1057515485
NM_006642.5(SDCCAG8):c.*287A>G rs1057515459

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