ClinVar Miner

List of variants in gene HNF4A reported as likely benign for HNF4A-related disorder

Minimum submission review status: Collection method:
Minimum conflict level:
Gene type:
ClinVar version:
Total variants: 20
Download table as spreadsheet
HGVS dbSNP gnomAD frequency
NM_175914.5(HNF4A):c.50-4746G>A rs75356504 0.00128
NM_175914.5(HNF4A):c.999C>T (p.Ile333=) rs150247632 0.00045
NM_175914.5(HNF4A):c.138G>A (p.Thr46=) rs145845882 0.00043
NM_175914.5(HNF4A):c.921C>T (p.Asp307=) rs151168174 0.00039
NM_175914.5(HNF4A):c.1176C>T (p.Asn392=) rs141448616 0.00033
NM_175914.5(HNF4A):c.50-4563G>A rs369478495 0.00031
NM_175914.5(HNF4A):c.50-4753G>A rs566155738 0.00016
NM_175914.5(HNF4A):c.1063+120G>A rs145360792 0.00006
NM_175914.5(HNF4A):c.670+7C>T rs376544046 0.00005
NM_175914.5(HNF4A):c.827-6T>C rs557971956 0.00005
NM_175914.5(HNF4A):c.50-3406A>G rs78904917 0.00004
NM_175914.5(HNF4A):c.50-4665C>T rs774093087 0.00003
NM_175914.5(HNF4A):c.50-4562G>A rs1216334774 0.00001
NM_175914.5(HNF4A):c.50-4G>A rs768911433 0.00001
NM_175914.5(HNF4A):c.138G>T (p.Thr46=) rs145845882
NM_175914.5(HNF4A):c.50-4747C>G rs1196142201
NM_175914.5(HNF4A):c.50-4754C>G rs2063403950
NM_175914.5(HNF4A):c.50-4758A>G rs946477017
NM_175914.5(HNF4A):c.852G>A (p.Gly284=)
NM_175914.5(HNF4A):c.952C>T (p.Leu318=) rs2063786087

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.