ClinVar Miner

List of variants studied for microcephaly, short stature, and limb abnormalities by Victorian Clinical Genetics Services, Murdoch Childrens Research Institute

Included ClinVar conditions (2):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 4
Download table as spreadsheet
HGVS dbSNP gnomAD frequency
NM_017613.4(DONSON):c.82A>C (p.Ser28Arg) rs768071555 0.00090
NM_017613.4(DONSON):c.670C>T (p.Pro224Ser) rs1028163227 0.00003
NM_017613.4(DONSON):c.1466A>C (p.Lys489Thr) rs146664036
NM_017613.4(DONSON):c.876C>G (p.Phe292Leu) rs779803447

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.