ClinVar Miner

List of variants in gene CTCF reported as uncertain significance for Inborn genetic diseases

Minimum submission review status: Collection method:
Minimum conflict level:
Gene type:
ClinVar version:
Total variants: 24
Download table as spreadsheet
HGVS dbSNP gnomAD frequency
NM_006565.4(CTCF):c.1772C>T (p.Thr591Met) rs139828150 0.00004
NM_006565.4(CTCF):c.2093A>G (p.Glu698Gly) rs996780408 0.00003
NM_006565.4(CTCF):c.1409G>A (p.Arg470His) rs1259626314 0.00001
NM_006565.4(CTCF):c.1012G>T (p.Val338Phe) rs1555534827
NM_006565.4(CTCF):c.1115C>T (p.Ser372Phe) rs2052189777
NM_006565.4(CTCF):c.121C>T (p.Pro41Ser)
NM_006565.4(CTCF):c.1288C>G (p.His430Asp)
NM_006565.4(CTCF):c.130C>A (p.Gln44Lys)
NM_006565.4(CTCF):c.1468A>G (p.Lys490Glu) rs1555535747
NM_006565.4(CTCF):c.1531A>G (p.Ile511Val)
NM_006565.4(CTCF):c.1699C>T (p.Arg567Trp) rs879255516
NM_006565.4(CTCF):c.1789G>A (p.Gly597Arg)
NM_006565.4(CTCF):c.1810T>C (p.Ser604Pro)
NM_006565.4(CTCF):c.1936C>T (p.Pro646Ser)
NM_006565.4(CTCF):c.2025C>A (p.Asp675Glu)
NM_006565.4(CTCF):c.2036G>A (p.Gly679Asp)
NM_006565.4(CTCF):c.2134C>T (p.Pro712Ser)
NM_006565.4(CTCF):c.247G>C (p.Ala83Pro)
NM_006565.4(CTCF):c.388T>C (p.Ser130Pro)
NM_006565.4(CTCF):c.443C>G (p.Ala148Gly)
NM_006565.4(CTCF):c.629G>A (p.Ser210Asn)
NM_006565.4(CTCF):c.637C>T (p.Arg213Cys)
NM_006565.4(CTCF):c.65G>A (p.Arg22Lys)
NM_006565.4(CTCF):c.677A>C (p.Tyr226Ser)

The information on this website is not intended for direct diagnostic use or medical decision-making without review by a genetics professional. Individuals should not change their health behavior solely on the basis of information contained on this website. Neither the University of Utah nor the National Institutes of Health independently verfies the submitted information. If you have questions about the information contained on this website, please see a health care professional.