ClinVar Miner

List of variants studied for multiple congenital anomalies/dysmorphic syndrome by Medical Genetic Institute of Henan Province, Henan Provincial People’s Hospital

Included ClinVar conditions (870):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 7
Download table as spreadsheet
HGVS dbSNP gnomAD frequency
NM_001083962.2(TCF4):c.667A>G (p.Ser223Gly) rs2146148434
NM_001365902.3(NFIX):c.28-12_28-11insAGCC rs2145190803
NM_001365902.3(NFIX):c.935G>A (p.Trp312Ter) rs2145443002
NM_001374828.1(ARID1B):c.2058del (p.Gln686fs) rs2128210848
NM_004187.5(KDM5C):c.2517_2622del rs2146844343
NM_004333.6(BRAF):c.1497A>C (p.Lys499Asn) rs397507476
NM_006766.5(KAT6A):c.3921_3922del (p.Glu1307fs) rs2150856658

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.