List of variants reported as pathogenic for intellectual disability-feeding difficulties-developmental delay-microcephaly syndrome by Institute of Human Genetics, University of Leipzig Medical Center

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Total variants: 17

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HGVS	dbSNP	gnomAD frequency
NM_006565.4(CTCF):c.1103G>A (p.Arg368His)	rs1259610303	0.00001
NM_006565.4(CTCF):c.1024C>T (p.Arg342Cys)	rs1131691283
NM_006565.4(CTCF):c.1102C>T (p.Arg368Cys)	rs1555535156
NM_006565.4(CTCF):c.1117C>G (p.His373Asp)	rs2142847326
NM_006565.4(CTCF):c.1130G>A (p.Arg377His)	rs968244943
NM_006565.4(CTCF):c.1133C>T (p.Pro378Leu)	rs2142847512
NM_006565.4(CTCF):c.1186dup (p.Arg396fs)	rs879255571
NM_006565.4(CTCF):c.1343G>A (p.Arg448Gln)	rs2142849782
NM_006565.4(CTCF):c.148dup (p.Val50fs)	rs2142823841
NM_006565.4(CTCF):c.1699C>T (p.Arg567Trp)	rs879255516
NM_006565.4(CTCF):c.292_293del (p.Leu98fs)	rs2142824576
NM_006565.4(CTCF):c.329dup (p.Gly111fs)	rs2052056650
NM_006565.4(CTCF):c.375dup (p.Val126fs)	rs879255570
NM_006565.4(CTCF):c.615_618del (p.Lys206fs)	rs1555534147
NM_006565.4(CTCF):c.688del (p.Glu230fs)	rs2142826656
NM_006565.4(CTCF):c.773_776del (p.Lys258fs)	rs1567608876
NM_006565.4(CTCF):c.804_805del (p.Cys268_Glu269delinsTer)	rs2142828055

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