ClinVar Miner

List of variants in gene ENG reported as likely benign by GeneDx

Minimum submission review status: Collection method:
Minimum conflict level:
Gene type:
ClinVar version:
Total variants: 15
Download table as spreadsheet
HGVS dbSNP gnomAD frequency
NM_001114753.3(ENG):c.68-256A>G rs41505655 0.01576
NM_001114753.3(ENG):c.524-30G>A rs41409546 0.01314
NM_001114753.3(ENG):c.67+254A>G rs143016113 0.01181
NM_001114753.3(ENG):c.523+235C>T rs41377844 0.00329
NM_001114753.3(ENG):c.1844C>T (p.Ser615Leu) rs148002300 0.00134
NM_001114753.3(ENG):c.524-12G>A rs142841129 0.00116
NM_001114753.3(ENG):c.392C>T (p.Pro131Leu) rs139398993 0.00077
NM_001114753.3(ENG):c.291G>C (p.Leu97=) rs376641299 0.00016
NM_001114753.3(ENG):c.1098C>T (p.Asp366=) rs201497772 0.00008
NM_001114753.3(ENG):c.1014C>T (p.Pro338=) rs1057522787 0.00001
NM_001114753.3(ENG):c.179_180delinsAA (p.Ala60Glu) rs1060504230
NM_001114753.3(ENG):c.1853-14GCTCCC[3] rs373296026
NM_001114753.3(ENG):c.444G>T (p.Glu148Asp) rs863223530
NM_001114753.3(ENG):c.507C>T (p.Leu169=) rs750014839
NM_001114753.3(ENG):c.909C>T (p.Ala303=) rs200306464

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.