ClinVar Miner

List of variants reported as pathogenic for cardiovascular organ benign neoplasm by Beijing Key Laboratory for Genetic Research of Skeletal Deformity,Peking Union Medical College Hospital

Included ClinVar conditions (43):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 4
Download table as spreadsheet
HGVS dbSNP
NM_000118.3(ENG):c.920dup (p.Asn307fs) rs1554810174
NM_006513.4(SARS1):c.971T>C (p.Ile324Thr) rs1553178399
NM_014319.5(LEMD3):c.2639C>G (p.Thr880Ser) rs1555196298
NM_031220.4(PITPNM3):c.274C>T (p.Arg92Ter) rs1555556099

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.