ClinVar Miner

List of variants reported as pathogenic for Ataxia - intellectual disability - oculomotor apraxia - cerebellar cysts syndrome 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_005559.4(LAMA1):c.184C>T (p.Arg62Ter)	rs758223206	0.00001
NM_005559.4(LAMA1):c.1404_1405del (p.Gly469fs)	rs2144180003

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