ClinVar Miner

List of variants in gene CEP290, RLIG1 studied for Bardet-Biedl syndrome

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Total variants: 2
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HGVS dbSNP gnomAD frequency
NM_025114.4(CEP290):c.*139TAAA[1] rs886049876
NM_025114.4(CEP290):c.*19_*22del rs142288119

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