ClinVar Miner

List of variants reported as uncertain significance for Hereditary spastic paraplegia 48 by Neuberg Centre For Genomic Medicine, NCGM

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Total variants: 3

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HGVS	dbSNP	gnomAD frequency
NM_014855.3(AP5Z1):c.1072C>T (p.Arg358Cys)	rs551568063	0.00007
NM_014855.3(AP5Z1):c.2010C>A (p.Phe670Leu)	rs750796286	0.00007
NM_014855.3(AP5Z1):c.500C>A (p.Thr167Asn)	rs748108455	0.00007

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