List of variants reported as pathogenic for obsolete AP4-related intellectual disability and spastic paraplegia by OMIM

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Total variants: 15

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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.1012C>T (p.Arg338Ter)	rs146262009	0.00004
NM_004722.4(AP4M1):c.577G>A (p.Glu193Lys)	rs387906838	0.00001
NC_000015.10:g.50755991_50948682del
NM_000039.3(APOA1):c.43+1G>T	rs2134233729
NM_001128126.3(AP4S1):c.124C>T (p.Arg42Ter)	rs387906970
NM_001128126.3(AP4S1):c.138+3_138+6del	rs876661295
NM_001253852.3(AP4B1):c.1160_1161del (p.Thr387fs)	rs587779388
NM_001253852.3(AP4B1):c.487_488insTAT (p.Glu163delinsValTer)	rs2101035173
NM_001253852.3(AP4B1):c.664del (p.Leu222fs)	rs1571563769
NM_004722.4(AP4M1):c.952C>T (p.Arg318Ter)	rs730882249
NM_006594.5:c.667del	rs2101027843
NM_007347.5(AP4E1):c.1359_1360insNN (p.Val454fs)	rs2140861877
NM_007347.5(AP4E1):c.3313C>T (p.Arg1105Ter)	rs1313275799
NM_007347.5(AP4E1):c.542+5_542+8del	rs2141147450

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