ClinVar Miner

List of variants in gene CTBP1 reported as likely benign by CeGaT Center for Human Genetics Tuebingen

Minimum submission review status: Collection method:
Minimum conflict level:
Gene type:
ClinVar version:
Total variants: 39
Download table as spreadsheet
HGVS dbSNP gnomAD frequency
NM_001012614.2(CTBP1):c.711C>T (p.Asn237=) rs147464431 0.00129
NM_001012614.2(CTBP1):c.681C>T (p.Gly227=) rs139911392 0.00121
NM_001012614.2(CTBP1):c.210C>G (p.Leu70=) rs144062192 0.00044
NM_001012614.2(CTBP1):c.252C>T (p.Ile84=) rs149708872 0.00024
NM_001012614.2(CTBP1):c.1214A>T (p.His405Leu) rs377619487 0.00023
NM_001012614.2(CTBP1):c.789G>A (p.Ala263=) rs147301141 0.00011
NM_001012614.2(CTBP1):c.988+7G>A rs200023219 0.00010
NM_001012614.2(CTBP1):c.162+102C>A rs189752725 0.00009
NM_001012614.2(CTBP1):c.843C>T (p.His281=) rs746419297 0.00006
NM_001012614.2(CTBP1):c.906C>T (p.Thr302=) rs760425578 0.00005
NM_001012614.2(CTBP1):c.315C>T (p.Ala105=) rs989650064 0.00004
NM_001012614.2(CTBP1):c.849G>A (p.Ser283=) rs764484563 0.00004
NM_001012614.2(CTBP1):c.1191C>A (p.Ser397=) rs137891531 0.00003
NM_001012614.2(CTBP1):c.1083T>G (p.Pro361=)
NM_001012614.2(CTBP1):c.1218G>C (p.Pro406=)
NM_001012614.2(CTBP1):c.1224C>T (p.His408=)
NM_001012614.2(CTBP1):c.1257G>A (p.Glu419=)
NM_001012614.2(CTBP1):c.1273G>A (p.Ala425Thr)
NM_001012614.2(CTBP1):c.162+138G>C
NM_001012614.2(CTBP1):c.162+141G>A
NM_001012614.2(CTBP1):c.162+159G>T
NM_001012614.2(CTBP1):c.162+176A>T
NM_001012614.2(CTBP1):c.162+192C>T
NM_001012614.2(CTBP1):c.162+282T>C
NM_001012614.2(CTBP1):c.162+296_162+330del
NM_001012614.2(CTBP1):c.162+339T>G
NM_001012614.2(CTBP1):c.162+339_162+408del
NM_001012614.2(CTBP1):c.162+40G>A
NM_001012614.2(CTBP1):c.162+80G>A
NM_001012614.2(CTBP1):c.162+84C>T
NM_001012614.2(CTBP1):c.163-8C>G rs111230970
NM_001012614.2(CTBP1):c.267T>C (p.Ser89=) rs2108756832
NM_001012614.2(CTBP1):c.465G>A (p.Ala155=)
NM_001012614.2(CTBP1):c.515-4C>T
NM_001012614.2(CTBP1):c.576C>T (p.Tyr192=)
NM_001012614.2(CTBP1):c.807G>A (p.Lys269=)
NM_001012614.2(CTBP1):c.822C>T (p.Arg274=) rs149624625
NM_001012614.2(CTBP1):c.942C>T (p.Ile314=) rs778712973
NM_001012614.2(CTBP1):c.984C>T (p.Ile328=)

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.