ClinVar Miner

Variants in gene CDT1 with conflicting interpretations "benign" and "likely benign"

Submission 1 (benign) minimum review status: Submission 1 (benign) method:
Submission 2 (likely benign) minimum review status: Submission 2 (likely benign) method:
Gene type:
ClinVar version:
Total variants with conflicting interpretations: 14
Download table as spreadsheet
HGVS dbSNP gnomAD frequency
NM_030928.4(CDT1):c.700T>C (p.Cys234Arg) rs507329 0.99944
NM_030928.4(CDT1):c.915T>C (p.His305=) rs510862 0.83978
NM_030928.4(CDT1):c.784A>G (p.Thr262Ala) rs480727 0.49695
NM_030928.4(CDT1):c.1587C>G (p.Leu529=) rs572275 0.47081
NM_030928.4(CDT1):c.549A>G (p.Gly183=) rs1834065 0.13858
NM_030928.4(CDT1):c.243T>C (p.Ser81=) rs475667 0.11192
NM_030928.4(CDT1):c.1500G>T (p.Leu500=) rs3218720 0.03976
NM_030928.4(CDT1):c.1179G>C (p.Gly393=) rs74035837 0.01762
NM_030928.4(CDT1):c.1221G>A (p.Pro407=) rs74035838 0.00376
NM_030928.4(CDT1):c.1411C>G (p.Pro471Ala) rs141663679 0.00207
NM_030928.4(CDT1):c.855G>A (p.Gln285=) rs142859474 0.00030
NM_030928.4(CDT1):c.768C>T (p.Pro256=) rs201965856 0.00014
NM_030928.4(CDT1):c.738C>T (p.Ser246=) rs200892812 0.00002
NM_030928.4(CDT1):c.1377C>T (p.Arg459=) rs3218730

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.