List of variants in gene BRCA1 reported by Genomic Diagnostic Laboratory, Division of Genomic Diagnostics, Children's Hospital of Philadelphia

Minimum submission review status:		Collection method:
Minimum conflict level: Report conflict between different conditions
Gene type: Distinguish antisense genes from sense genes
		ClinVar version:

Total variants: 10

Download table as spreadsheet

HGVS	dbSNP	gnomAD frequency
NM_007294.4(BRCA1):c.1067A>G (p.Gln356Arg)	rs1799950	0.04695
NM_007294.4(BRCA1):c.4956G>A (p.Met1652Ile)	rs1799967	0.01348
NM_007294.4(BRCA1):c.3119G>A (p.Ser1040Asn)	rs4986852	0.01109
NM_007294.4(BRCA1):c.2458A>G (p.Lys820Glu)	rs56082113	0.00964
NM_007294.4(BRCA1):c.557C>A (p.Ser186Tyr)	rs55688530	0.00301
NM_007294.4(BRCA1):c.2521C>T (p.Arg841Trp)	rs1800709	0.00137
NM_007294.4(BRCA1):c.3083G>A (p.Arg1028His)	rs80357459	0.00106
NM_007294.4(BRCA1):c.1456T>C (p.Phe486Leu)	rs55906931	0.00034
NM_007294.4(BRCA1):c.1648A>C (p.Asn550His)	rs56012641	0.00029
NM_007294.4(BRCA1):c.536A>G (p.Tyr179Cys)	rs56187033	0.00029

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.