ClinVar Miner

List of variants studied for Ataxia - intellectual disability - oculomotor apraxia - cerebellar cysts syndrome by Provincial Medical Genetics Program of British Columbia, University of British Columbia

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Total variants: 2
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HGVS dbSNP gnomAD frequency
NM_005559.4(LAMA1):c.3919C>T (p.Arg1307Ter) rs767943611 0.00004
NM_005559.4(LAMA1):c.7009dup (p.Ser2337fs) rs2144018381

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