ClinVar Miner

List of variants reported for Hereditary spastic paraplegia 46 by Neuberg Centre For Genomic Medicine, NCGM

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Total variants: 3
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HGVS dbSNP gnomAD frequency
NM_020944.3(GBA2):c.2617C>T (p.Arg873Cys) rs757252849 0.00001
NM_020944.3(GBA2):c.892G>A (p.Gly298Arg) rs2490895980 0.00001
NM_020944.3(GBA2):c.1408del (p.Arg470fs)

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