ClinVar Miner

List of variants reported by Department of Medical Genetics, College of Basic Medicine, Army Medical University

Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 10
Download table as spreadsheet
HGVS dbSNP gnomAD frequency
NM_000082.4(ERCC8):c.769G>A (p.Gly257Arg) rs770499406 0.00001
NM_000372.5(TYR):c.1265G>A (p.Arg422Gln) rs61754393 0.00001
NM_000094.4(COL7A1):c.6110G>T (p.Gly2037Val)
NM_000368.5(TSC1):c.2127del (p.Arg709fs)
NM_001042492.3(NF1):c.1457del (p.Thr486fs)
NM_001042492.3(NF1):c.5609G>C (p.Arg1870Pro)
NM_001099857.5(IKBKG):c.1167dup (p.Glu390fs) rs782178147
NM_003001.5(SDHC):c.386G>A (p.Trp129Ter) rs1672294906
NM_017671.5(FERMT1):c.994C>T (p.Gln332Ter) rs2123118335
NM_170665.4(ATP2A2):c.1013C>T (p.Ser338Phe)

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.