List of variants in gene AP4S1 reported as pathogenic for Spastic paraplegia 52, autosomal recessive

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Gene type: Distinguish antisense genes from sense genes
Show significances as they were submitted (without aggregation into standard terms)
		ClinVar version:

Total variants: 6

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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.43C>T (p.Arg15Ter)	rs754944359	0.00004
NM_001128126.3(AP4S1):c.124C>T (p.Arg42Ter)	rs387906970
NM_001128126.3(AP4S1):c.138+3_138+6del	rs876661295
NM_001128126.3(AP4S1):c.365_366delinsAG (p.Cys122Ter)
Single allele

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