ClinVar Miner

List of variants reported as pathogenic for Hereditary spastic paraplegia 7 by Oxford Medical Genetics Laboratories, Oxford University Hospitals NHS Foundation Trust

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Total variants: 2

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HGVS	dbSNP	gnomAD frequency
NM_003119.4(SPG7):c.1672A>T (p.Lys558Ter)	rs369227537	0.00010
NM_003119.4(SPG7):c.1450-1_1457del	rs768823392

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