ClinVar Miner

List of variants studied for hematologic disorder by Center for Molecular Medicine, Children’s Hospital of Fudan University

Included ClinVar conditions (819):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 4
Download table as spreadsheet
HGVS dbSNP gnomAD frequency
NM_001142864.4(PIEZO1):c.3197A>G (p.Asp1066Gly) rs1904552378 0.00001
NM_000074.3(CD40LG):c.359del (p.Pro120fs) rs1603321138
NM_000397.4(CYBB):c.1139G>A (p.Trp380Ter) rs1602183244
NM_001142864.4(PIEZO1):c.3191G>T (p.Cys1064Phe) rs1904821405

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.