List of variants reported as likely 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: 13

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HGVS	dbSNP	gnomAD frequency
NM_006565.4(CTCF):c.1168G>A (p.Asp390Asn)	rs750256116	0.00001
NM_006565.4(CTCF):c.1006G>C (p.Glu336Gln)	rs2142839453
NM_006565.4(CTCF):c.1016G>A (p.Arg339Gln)	rs1567610917
NM_006565.4(CTCF):c.1025G>A (p.Arg342His)	rs1002125753
NM_006565.4(CTCF):c.1118A>C (p.His373Pro)	rs2142847343
NM_006565.4(CTCF):c.1226G>A (p.Cys409Tyr)	rs2142849459
NM_006565.4(CTCF):c.1960C>T (p.Arg654Ter)	rs2142887156
NM_006565.4(CTCF):c.442dup (p.Ala148fs)
NM_006565.4(CTCF):c.782-1G>T	rs2142827936
NM_006565.4(CTCF):c.782-2A>G	rs1555534189
NM_006565.4(CTCF):c.848G>A (p.Arg283His)	rs1567609067
NM_006565.4(CTCF):c.881A>C (p.His294Pro)	rs2052068772
NM_006565.4(CTCF):c.979T>A (p.Cys327Ser)	rs2052136913

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