ClinVar Miner

List of variants reported as pathogenic for Spastic paraplegia 11, autosomal recessive by Department of Rehabilitation Medicine, Incheon St. Mary’s Hospital,College of Medicine, The Catholic University of Korea

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Total variants: 2
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HGVS dbSNP
NM_025137.4(SPG11):c.3291+1G>T rs312262753
NM_025137.4(SPG11):c.5408_5409TG[1] (p.Cys1804fs) rs312262766

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