List of variants in gene CTCF reported as likely pathogenic for Inborn genetic diseases

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: 3

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HGVS	dbSNP	gnomAD frequency
NM_006565.4(CTCF):c.1169A>T (p.Asp390Val)	rs2543470728
NM_006565.4(CTCF):c.1277_1291del (p.Ile426_His430del)	rs2543472599
NM_006565.4(CTCF):c.782-2A>G	rs1555534189

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