List of variants in gene EGFR reported as likely pathogenic by Invitae

Minimum submission review status:		Collection method:
Minimum conflict level: Report conflict between different conditions
Gene type: Distinguish antisense genes from sense genes
Show significances as they were submitted (without aggregation into standard terms)
		ClinVar version:

Total variants: 23

Download table as spreadsheet

HGVS	dbSNP	gnomAD frequency
NM_005228.5(EGFR):c.2369C>T (p.Thr790Met)	rs121434569	0.00006
NM_005228.5(EGFR):c.1919+2T>G	rs1166325650	0.00001
NM_005228.5(EGFR):c.2061+2T>C	rs587777939	0.00001
NM_005228.5(EGFR):c.1498+1G>T
NM_005228.5(EGFR):c.1723-2A>G
NM_005228.5(EGFR):c.1881-2A>C
NM_005228.5(EGFR):c.1881-2A>G	rs774963273
NM_005228.5(EGFR):c.1919+1G>A	rs2128951424
NM_005228.5(EGFR):c.2061+1G>A
NM_005228.5(EGFR):c.2181_2184+7del
NM_005228.5(EGFR):c.240+1G>A	rs2128926460
NM_005228.5(EGFR):c.2469+1G>A
NM_005228.5(EGFR):c.2947-1G>A	rs1787830570
NM_005228.5(EGFR):c.2947-1G>T
NM_005228.5(EGFR):c.2947-2A>G
NM_005228.5(EGFR):c.3115-1G>A	rs142231053
NM_005228.5(EGFR):c.3162+1G>A	rs1034084415
NM_005228.5(EGFR):c.3162+1G>T	rs1034084415
NM_005228.5(EGFR):c.628+1G>T
NM_005228.5(EGFR):c.629-2A>G
NM_005228.5(EGFR):c.748-1G>A
NM_005228.5(EGFR):c.88+2T>G
NM_005228.5(EGFR):c.889+1G>A

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.