ClinVar Miner

List of variants reported as pathogenic for Hereditary spastic paraplegia 7 by Neurometabolic Diseases Laboratory, Bellvitge Biomedical Research Institute (IDIBELL)

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Total variants: 3

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HGVS	dbSNP	gnomAD frequency
NM_003119.4(SPG7):c.1450-1_1457del	rs768823392
NM_003119.4(SPG7):c.2195T>C (p.Leu732Pro)
NM_003119.4(SPG7):c.286+853A>G

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