ClinVar Miner

List of variants reported as uncertain significance for DNA repair disease by Institute of Human Genetics, University of Leipzig Medical Center

Included ClinVar conditions (124):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 8
Download table as spreadsheet
HGVS dbSNP gnomAD frequency
NM_000535.7(PMS2):c.52A>G (p.Ile18Val) rs63750123 0.00861
NM_032043.3(BRIP1):c.1255C>T (p.Arg419Trp) rs150624408 0.00026
NM_015046.7(SETX):c.2755G>C (p.Val919Leu) rs561190371 0.00003
NM_000251.3(MSH2):c.1223A>G (p.Tyr408Cys) rs63750379 0.00001
NM_015046.7(SETX):c.6158A>G (p.Asn2053Ser) rs1429339677 0.00001
NM_000251.3(MSH2):c.942+29del rs11309117
NM_000535.7(PMS2):c.2186_2187del (p.Leu729fs) rs587779335
NM_001018113.3(FANCB):c.1458C>G (p.Ser486Arg) rs2092396657

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.