ClinVar Miner

List of variants reported as pathogenic for Chopra-Amiel-Gordon syndrome by OMIM

Included ClinVar conditions (1):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 5
Download table as spreadsheet
HGVS dbSNP gnomAD frequency
NM_032217.5(ANKRD17):c.1958-2A>C rs2148823868
NM_032217.5(ANKRD17):c.2623G>T (p.Glu875Ter) rs1578168407
NM_032217.5(ANKRD17):c.4091G>C (p.Gly1364Ala) rs2148684587
NM_032217.5(ANKRD17):c.4341_4344del (p.Gln1448fs) rs2148661856
NM_032217.5(ANKRD17):c.5756dup (p.Ala1920fs) rs1722830922

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.