ClinVar Miner

List of variants reported as likely benign for Severe feeding difficulties-failure to thrive-microcephaly due to ASXL3 deficiency syndrome by Fulgent Genetics, Fulgent Genetics

Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 5
Download table as spreadsheet
HGVS dbSNP gnomAD frequency
NM_030632.3(ASXL3):c.3324T>G (p.Ala1108=) rs77617474 0.00638
NM_030632.3(ASXL3):c.1995A>G (p.Arg665=) rs143855418 0.00536
NM_030632.3(ASXL3):c.4817G>A (p.Arg1606Gln) rs116363417 0.00339
NM_030632.3(ASXL3):c.6359C>T (p.Ala2120Val) rs151081332 0.00217
NM_030632.3(ASXL3):c.6603C>T (p.Ala2201=) rs3809986 0.00073

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.