ClinVar Miner

List of variants studied for DNA repair disease by Soonchunhyang University Bucheon Hospital, Soonchunhyang University Medical Center

Included ClinVar conditions (124):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 5
Download table as spreadsheet
HGVS dbSNP gnomAD frequency
NM_006502.3(POLH):c.1603A>G (p.Lys535Glu) rs56307355 0.00028
NM_006502.3(POLH):c.490G>T (p.Glu164Ter) rs767433001 0.00002
NM_001113378.2(FANCI):c.158-2A>G rs762128147
NM_001983.4(ERCC1):c.184G>T (p.Glu62Ter) rs150584960
NM_005732.4(RAD50):c.3806_3807del (p.His1269fs) rs1085307088

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.