ClinVar Miner

List of variants studied for Hereditary spastic paraplegia 7 by Neuberg Centre For Genomic Medicine, NCGM

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Total variants: 4
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HGVS dbSNP gnomAD frequency
NM_003119.4(SPG7):c.233T>A (p.Leu78Ter) rs121918358 0.00014
NM_003119.4(SPG7):c.415C>T (p.Arg139Ter) rs370777371 0.00001
NM_003119.4(SPG7):c.2099A>G (p.Asp700Gly)
NM_003119.4(SPG7):c.746G>A (p.Gly249Glu)

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