ClinVar Miner

List of variants reported as likely 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.1045G>A (p.Gly349Ser) rs141659620 0.00103
NM_003119.4(SPG7):c.1033G>C (p.Ala345Pro) rs368373840
NM_003119.4(SPG7):c.1450-1_1457del rs768823392
NM_003119.4(SPG7):c.1904C>T (p.Ser635Leu) rs864622507

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