List of variants reported as pathogenic for Familial cancer of breast by Liquid Biopsy and Cancer Interception Group, Pfizer-University of Granada-Junta de Andalucía Centre for Genomics and Oncological Research

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: 6

Download table as spreadsheet

HGVS	dbSNP	gnomAD frequency
NG_008150.2:g.(27473_34849)_(43363_46929)dup
NM_000051.4(ATM):c.3046G>T (p.Gly1016Ter)	rs2081575204
NM_000051.4(ATM):c.320dup (p.Cys107fs)	rs2078893430
NM_000051.4(ATM):c.6215del (p.Gly2072fs)	rs2084775383
NM_000051.4(ATM):c.7751_7754del (p.Thr2584fs)	rs2086308364
NM_007294.4(BRCA1):c.4406dup (p.Glu1470fs)	rs2052734372

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.