List of variants in gene AP4S1 reported as pathogenic for obsolete AP4-related intellectual disability and spastic paraplegia

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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: 4

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

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