ClinVar Miner

List of variants studied for Joubert syndrome 3 by Centre de Biologie Pathologie Génétique, Centre Hospitalier Universitaire de Lille

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Total variants: 2
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HGVS dbSNP gnomAD frequency
NM_001134831.2(AHI1):c.2266G>T (p.Gly756Cys) rs376754552 0.00001
NM_001134831.2(AHI1):c.1270del (p.Ile424fs) rs1788846426

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