ClinVar Miner

List of variants reported as pathogenic for breast cancer by Center of Medical Genetics and Primary Health Care

Included ClinVar conditions (61):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 16
Download table as spreadsheet
HGVS dbSNP gnomAD frequency
NM_007194.4(CHEK2):c.409C>T (p.Arg137Ter) rs730881701 0.00001
NM_000059.3(BRCA2):c.2808_2811del (p.Ala938Profs) rs80359351
NM_000059.4(BRCA2):c.1528G>T (p.Glu510Ter) rs80358438
NM_000059.4(BRCA2):c.4037_4038del (p.Thr1346fs) rs80359421
NM_000059.4(BRCA2):c.4548_4549del (p.Lys1517fs) rs1064793413
NM_000059.4(BRCA2):c.5006T>G (p.Leu1669Ter) rs1555284032
NM_000059.4(BRCA2):c.6302del (p.Asn2101fs) rs397507839
NM_000059.4(BRCA2):c.7689del (p.His2563fs) rs80359674
NM_000059.4(BRCA2):c.9097dup (p.Thr3033fs) rs397507419
NM_002485.5(NBN):c.1502G>A (p.Trp501Ter) rs1554558472
NM_007294.4(BRCA1):c.211A>G (p.Arg71Gly) rs80357382
NM_007294.4(BRCA1):c.302-1G>A rs80358116
NM_007294.4(BRCA1):c.3436_3439del (p.Cys1146fs) rs397509067
NM_007294.4(BRCA1):c.798_799del (p.Ser267fs) rs80357724
NM_024675.4(PALB2):c.3299_3306dup (p.Val1103fs) rs1555458187
NM_032043.3(BRIP1):c.917dup (p.Asn306fs) rs1555609121

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.