ClinVar Miner

List of variants studied for developmental defect during embryogenesis by Department of Traditional Chinese Medicine, Fujian Provincial Hospital

Included ClinVar conditions (2031):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 6
Download table as spreadsheet
HGVS dbSNP gnomAD frequency
NM_000135.4(FANCA):c.154C>T (p.Arg52Ter) rs773159223 0.00002
NM_006767.4(LZTR1):c.1365C>T (p.Cys455=) rs1386837360 0.00001
NC_000016.9:g.(?_89865477)_(89895213_?)del
NM_001042492.3(NF1):c.4770_4771del (p.Ser1591fs) rs2151470150
NM_001114753.3(ENG):c.498G>C (p.Gln166His) rs1167818567
NM_024757.5(EHMT1):c.2382+1750G>A

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.