ClinVar Miner

List of variants reported as uncertain significance by Vantari Genetics

Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 17
Download table as spreadsheet
HGVS dbSNP gnomAD frequency
NM_007294.4(BRCA1):c.4956G>A (p.Met1652Ile) rs1799967 0.01348
NM_000245.4(MET):c.2975C>T (p.Thr992Ile) rs56391007 0.00911
NM_000059.4(BRCA2):c.67+82C>G rs189026060 0.00272
NM_000051.4(ATM):c.1229T>C (p.Val410Ala) rs56128736 0.00186
NM_004655.4(AXIN2):c.2272G>A (p.Ala758Thr) rs145007501 0.00179
NM_000051.4(ATM):c.4388T>G (p.Phe1463Cys) rs138327406 0.00103
NM_005732.4(RAD50):c.1534G>T (p.Ala512Ser) rs147366706 0.00079
NM_005732.4(RAD50):c.3036+5G>A rs181016343 0.00078
NM_000245.4(MET):c.71G>A (p.Gly24Glu) rs180985111 0.00055
NM_000059.4(BRCA2):c.7435+6G>A rs81002852 0.00053
NM_001048174.2(MUTYH):c.1174C>A (p.Leu392Met) rs144079536 0.00041
NM_000245.4(MET):c.1771C>T (p.Arg591Trp) rs45602940 0.00015
NM_032043.3(BRIP1):c.2233G>A (p.Ala745Thr) rs587780235 0.00006
NM_000179.3(MSH6):c.1844G>C (p.Cys615Ser) rs730881793 0.00005
NM_000059.4(BRCA2):c.3479G>A (p.Arg1160Lys) rs183920365 0.00002
NM_004360.5(CDH1):c.2264A>G (p.Tyr755Cys) rs187289510 0.00001
NM_000249.4(MLH1):c.1852_1853delinsGC (p.Lys618Ala) rs35502531

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.