List of variants reported as likely pathogenic for Fanconi anemia complementation group E by Invitae

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

Total variants: 8

Download table as spreadsheet

HGVS	dbSNP	gnomAD frequency
NM_021922.3(FANCE):c.1238-1G>C	rs1767507722	0.00001
NM_021922.3(FANCE):c.248+1del	rs1767163932	0.00001
NC_000006.11:g.(?_35423579)_(35424285_?)del
NC_000006.11:g.(?_35423579)_35424285del
NM_021922.3(FANCE):c.1113+1G>A	rs2150895088
NM_021922.3(FANCE):c.1237+1G>A
NM_021922.3(FANCE):c.248+1G>A	rs1480350743
NM_021922.3(FANCE):c.304_855+155delinsGGACTCCCAGGGAG	rs2150889955

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.