ClinVar Miner

Variants in gene CUL7 with conflicting interpretations "likely benign" and "uncertain significance"

Submission 1 (likely benign) minimum review status: Submission 1 (likely benign) method:
Submission 2 (uncertain significance) minimum review status: Submission 2 (uncertain significance) method:
Gene type:
ClinVar version:
Total variants with conflicting interpretations: 24
Download table as spreadsheet
HGVS dbSNP gnomAD frequency
NM_014780.5(CUL7):c.2645G>A (p.Arg882Gln) rs45574335 0.00185
NM_014780.5(CUL7):c.2614G>A (p.Gly872Ser) rs61750320 0.00170
NM_014780.5(CUL7):c.1859C>T (p.Pro620Leu) rs147326417 0.00115
NM_014780.5(CUL7):c.1067G>A (p.Arg356His) rs146227929 0.00114
NM_014780.5(CUL7):c.136C>T (p.Arg46Trp) rs141692693 0.00108
NM_014780.5(CUL7):c.2115C>T (p.His705=) rs143128153 0.00098
NM_014780.5(CUL7):c.2163T>C (p.Asp721=) rs145572983 0.00061
NM_014780.5(CUL7):c.3432G>A (p.Thr1144=) rs144556973 0.00036
NM_014780.5(CUL7):c.2682T>C (p.Ala894=) rs138043979 0.00034
NM_014780.5(CUL7):c.3273G>A (p.Ser1091=) rs144269675 0.00031
NM_014780.5(CUL7):c.2802C>A (p.Leu934=) rs144926293 0.00025
NM_014780.5(CUL7):c.981C>T (p.Pro327=) rs144880219 0.00022
NM_014780.5(CUL7):c.4482C>T (p.Ser1494=) rs760462179 0.00008
NM_014780.5(CUL7):c.3747G>A (p.Leu1249=) rs141211365 0.00006
NM_014780.5(CUL7):c.4713C>T (p.Ile1571=) rs368539088 0.00006
NM_014780.5(CUL7):c.4146T>C (p.Tyr1382=) rs760451045 0.00005
NM_014780.5(CUL7):c.4876C>G (p.Leu1626Val) rs750060978 0.00004
NM_014780.5(CUL7):c.3861C>T (p.Ala1287=) rs745678508 0.00002
NM_014780.5(CUL7):c.1005G>A (p.Leu335=) rs201310376 0.00001
NM_014780.5(CUL7):c.4068A>G (p.Glu1356=) rs886043610 0.00001
NM_014780.5(CUL7):c.1782G>A (p.Ala594=) rs369092411
NM_014780.5(CUL7):c.2229C>G (p.Ala743=) rs188565648
NM_014780.5(CUL7):c.2581C>T (p.Pro861Ser) rs147452416
NM_014780.5(CUL7):c.2754G>A (p.Thr918=) rs138777262

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.