List of variants in gene HNF4A reported as likely benign for inherited Fanconi renotubular syndrome

Minimum submission review status:		Collection method:
Minimum conflict level: Report conflict between different conditions
Gene type: Distinguish antisense genes from sense genes
Show significances as they were submitted (without aggregation into standard terms)
		ClinVar version:

Total variants: 14

Download table as spreadsheet

HGVS	dbSNP	gnomAD frequency
NM_175914.5(HNF4A):c.669A>G (p.Leu223=)	rs139591750	0.00425
NM_175914.5(HNF4A):c.1137C>T (p.Asn379=)	rs61737145	0.00384
NM_175914.5(HNF4A):c.744C>T (p.Asp248=)	rs6031592	0.00257
NM_175914.5(HNF4A):c.1032T>A (p.Ile344=)	rs145880201	0.00062
NM_175914.5(HNF4A):c.999C>T (p.Ile333=)	rs150247632	0.00045
NM_175914.5(HNF4A):c.921C>T (p.Asp307=)	rs151168174	0.00039
NM_175914.5(HNF4A):c.576C>T (p.Asp192=)	rs759574096	0.00019
NM_175914.5(HNF4A):c.353G>A (p.Arg118Gln)	rs764196059	0.00006
NM_175914.5(HNF4A):c.670+7C>T	rs376544046	0.00005
NM_175914.5(HNF4A):c.1026C>T (p.Ala342=)	rs751892618	0.00004
NM_175914.5(HNF4A):c.468G>A (p.Ala156=)	rs758124162	0.00004
NM_175914.5(HNF4A):c.1064-18G>A	rs773235761	0.00003
NM_175914.5(HNF4A):c.-79C>T	rs373143621	0.00001
NM_175914.5(HNF4A):c.912C>A (p.Arg304=)	rs760811566

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.