ClinVar Miner

List of variants studied for Familial cancer of breast by Genomic Research Center, Shahid Beheshti University of Medical Sciences

Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 27
Download table as spreadsheet
HGVS dbSNP gnomAD frequency
NM_007294.4(BRCA1):c.671-248_671-246dup rs5820483 0.33157
NM_007294.4(BRCA1):c.2082C>T (p.Ser694=) rs1799949 0.30810
NM_007294.4(BRCA1):c.3548A>G (p.Lys1183Arg) rs16942 0.30784
NM_007294.4(BRCA1):c.5152+66G>A rs3092994 0.30314
NM_007294.4(BRCA1):c.4308T>C (p.Ser1436=) rs1060915 0.29170
NM_007294.4(BRCA1):c.3113A>G (p.Glu1038Gly) rs16941 0.29115
NM_007294.4(BRCA1):c.2311T>C (p.Leu771=) rs16940 0.29035
NM_000059.4(BRCA2):c.3396A>G (p.Lys1132=) rs1801406 0.28273
NM_007294.4(BRCA1):c.5074+65G>A rs8176235 0.23738
NM_007294.4(BRCA1):c.5074+284C>A rs11654396 0.23139
NM_000059.4(BRCA2):c.-26G>A rs1799943 0.20795
NM_007194.4(CHEK2):c.541C>T (p.Arg181Cys) rs137853010 0.00006
NM_032043.3(BRIP1):c.1972C>T (p.Arg658Trp) rs786203170 0.00003
NM_007194.4(CHEK2):c.592+3A>T rs587782849 0.00001
NM_007294.4(BRCA1):c.3607C>T (p.Arg1203Ter) rs62625308 0.00001
NM_000059.4(BRCA2):c.3830del (p.Asn1277fs) rs397507689
NM_000059.4(BRCA2):c.5555T>A (p.Val1852Asp) rs483352930
NM_000059.4(BRCA2):c.6841+80_6841+83del rs11571661
NM_000059.4(BRCA2):c.8490G>A (p.Trp2830Ter) rs587776351
NM_000465.4(BARD1):c.2106C>G (p.Ile702Met) rs1559372357
NM_006218.4(PIK3CA):c.407dup (p.Gln137fs) rs1560137609
NM_007194.4(CHEK2):c.924G>T (p.Glu308Asp) rs1601739269
NM_007294.4(BRCA1):c.2216_2217del (p.Lys739fs) rs80357802
NM_007294.4(BRCA1):c.2612C>T (p.Pro871Leu) rs799917
NM_007294.4(BRCA1):c.4097-141A>C rs799916
NM_007294.4(BRCA1):c.4837A>G (p.Ser1613Gly) rs1799966
NM_032043.3(BRIP1):c.848G>A (p.Cys283Tyr) rs771096783

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.