List of variants studied for obsolete AP4-related intellectual disability and spastic paraplegia by Genomic Medicine Center of Excellence, King Faisal Specialist Hospital and Research Centre

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Total variants: 6

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HGVS	dbSNP	gnomAD frequency
NM_001128126.3(AP4S1):c.289C>T (p.Arg97Ter)	rs200440467	0.00009
NM_004722.4(AP4M1):c.809T>C (p.Leu270Pro)	rs895548740	0.00001
NM_001253852.3(AP4B1):c.664del (p.Leu222fs)	rs1571563769
NM_001254729.1(AP4S1):c.226_294del	rs2502427733
NM_004722.4(AP4M1):c.547C>T (p.Gln183Ter)	rs1796279189
NM_004722.4(AP4M1):c.952C>T (p.Arg318Ter)	rs730882249

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