List of variants in gene CTCF reported as likely pathogenic for intellectual disability-feeding difficulties-developmental delay-microcephaly syndrome

Minimum submission review status:		Collection method:
Minimum conflict level: Report conflict between different conditions
Gene type: Distinguish antisense genes from sense genes
Show significances as they were submitted (without aggregation into standard terms)
		ClinVar version:

Total variants: 28

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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.-3_2delinsTC (p.Met1del)	rs2142822830
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.1079G>T (p.Ser360Ile)	rs1597718106
NM_006565.4(CTCF):c.1118A>C (p.His373Pro)	rs2142847343
NM_006565.4(CTCF):c.1119T>A (p.His373Gln)	rs2142847350
NM_006565.4(CTCF):c.1133C>T (p.Pro378Leu)	rs2142847512
NM_006565.4(CTCF):c.1169A>G (p.Asp390Gly)
NM_006565.4(CTCF):c.1226G>A (p.Cys409Tyr)	rs2142849459
NM_006565.4(CTCF):c.1342C>T (p.Arg448Ter)
NM_006565.4(CTCF):c.1365C>G (p.His455Gln)	rs1597725291
NM_006565.4(CTCF):c.1376A>C (p.Gln459Pro)
NM_006565.4(CTCF):c.1699C>T (p.Arg567Trp)	rs879255516
NM_006565.4(CTCF):c.1960C>T (p.Arg654Ter)	rs2142887156
NM_006565.4(CTCF):c.293T>G (p.Leu98Ter)
NM_006565.4(CTCF):c.442dup (p.Ala148fs)
NM_006565.4(CTCF):c.721_722del (p.Asn241fs)
NM_006565.4(CTCF):c.782-1G>A
NM_006565.4(CTCF):c.782-1G>C	rs2142827936
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.867_868dup (p.Asp290fs)
NM_006565.4(CTCF):c.881A>C (p.His294Pro)	rs2052068772
NM_006565.4(CTCF):c.958C>G (p.Arg320Gly)	rs1161257134
NM_006565.4(CTCF):c.979T>A (p.Cys327Ser)	rs2052136913

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