ClinVar Miner

List of variants reported as pathogenic for Hereditary spastic paraplegia 48 by Revvity Omics, Revvity

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Total variants: 2
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HGVS dbSNP gnomAD frequency
NM_014855.3(AP5Z1):c.931C>T (p.Arg311Ter) rs376075583 0.00001
NM_014855.3(AP5Z1):c.1323G>A (p.Trp441Ter) rs1233553130

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