ClinVar Miner

List of variants studied for Joubert syndrome 3 by Juno Genomics, Hangzhou Juno Genomics, Inc

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Total variants: 2
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HGVS dbSNP gnomAD frequency
NM_001134831.2(AHI1):c.533_534del (p.Glu178fs) rs759593846 0.00002
NM_001134831.2(AHI1):c.630_633del (p.Lys210fs) rs776569081

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