List of variants reported as likely pathogenic for hereditary spastic paraplegia 52

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Total variants: 5

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HGVS	dbSNP	gnomAD frequency
NM_001128126.3(AP4S1):c.289C>T (p.Arg97Ter)	rs200440467	0.00009
NM_001128126.3(AP4S1):c.138+2T>G	rs377679827	0.00002
NM_001128126.3(AP4S1):c.139-2A>G	rs758748011	0.00002
NM_001128126.3(AP4S1):c.295-3C>A	rs185246578	0.00002
NM_001128126.3(AP4S1):c.295-1G>A	rs2139098086

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