ClinVar Miner

List of variants in gene SPG11 reported as uncertain significance by Unit for Genetic & Epidemiological Research on Neurological Disorders, Instituto de Investigação e Inovação em Saúde

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Total variants: 2
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HGVS dbSNP gnomAD frequency
NM_025137.4(SPG11):c.3818A>G (p.Lys1273Arg) rs76389165 0.00694
NM_025137.4(SPG11):c.2486T>G (p.Val829Gly) rs1555455561

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