ClinVar Miner

List of variants reported as pathogenic for Hereditary spastic paraplegia 7 by Genetic Services Laboratory, University of Chicago

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Total variants: 4
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HGVS dbSNP gnomAD frequency
NM_003119.4(SPG7):c.1529C>T (p.Ala510Val) rs61755320 0.00361
NM_003119.4(SPG7):c.2228T>C (p.Ile743Thr) rs752623413 0.00006
NM_003119.4(SPG7):c.988-1G>A rs748309520 0.00001
NM_003119.4(SPG7):c.861dup (p.Asn288Ter) rs797046003

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