ClinVar Miner

List of variants reported as benign for Familial hyperinsulinism

Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 14
Download table as spreadsheet
HGVS dbSNP gnomAD frequency
NM_175914.5(HNF4A):c.*1132C>T rs6130615 0.24797
NM_175914.5(HNF4A):c.*392T>G rs11086926 0.13032
NM_175914.5(HNF4A):c.*2366G>C rs3212211 0.11643
NM_175914.5(HNF4A):c.*305A>G rs56343153 0.04078
NM_175914.5(HNF4A):c.*242T>C rs41282030 0.04068
NM_175914.5(HNF4A):c.135C>T (p.Ala45=) rs736823 0.03705
NM_175914.5(HNF4A):c.*700T>C rs114764820 0.02223
NM_175914.5(HNF4A):c.*1832G>A rs4812832 0.02019
NM_175914.5(HNF4A):c.*2533G>A rs76705771 0.01679
NM_175914.5(HNF4A):c.*155G>A rs41280258 0.01170
NM_175914.5(HNF4A):c.669A>G (p.Leu223=) rs139591750 0.00425
NM_175914.5(HNF4A):c.*7G>A rs186057842 0.00043
NM_175914.5(HNF4A):c.*906A>C rs3212210
NM_175914.5(HNF4A):c.*906A>T rs3212210

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.