ClinVar Miner

List of variants reported as uncertain significance for Joubert syndrome 5 by Molecular Medicine for Neurodegenerative and Neuromuscular Diseases Unit, IRCCS Fondazione Stella Maris

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Total variants: 2

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HGVS	dbSNP	gnomAD frequency
NM_025114.4(CEP290):c.1092T>G (p.Ile364Met)	rs201988582	0.00054
NM_025114.4(CEP290):c.963T>A (p.Asp321Glu)	rs774072453

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