List of variants in gene HNF1A reported by ARUP Laboratories, Molecular Genetics and Genomics, ARUP Laboratories

Minimum submission review status:		Collection method:
Minimum conflict level: Report conflict between different conditions
Gene type: Distinguish antisense genes from sense genes
		ClinVar version:

Total variants: 15

Download table as spreadsheet

HGVS	dbSNP	gnomAD frequency
NM_000545.8(HNF1A):c.1720A>G (p.Ser574Gly)	rs1169305	0.98610
NM_000545.8(HNF1A):c.326+20C>A	rs80051981	0.00772
NM_000545.8(HNF1A):c.326+6_326+10dup	rs56158114	0.00415
NM_000545.8(HNF1A):c.1107+9C>G	rs17847497	0.00081
NM_000545.8(HNF1A):c.92G>A (p.Gly31Asp)	rs137853247	0.00076
NM_000545.8(HNF1A):c.1748G>A (p.Arg583Gln)	rs137853242	0.00060
NM_000545.8(HNF1A):c.1556C>T (p.Pro519Leu)	rs749673816	0.00001
NM_000545.8(HNF1A):c.1136_1137del (p.Pro379fs)	rs1593060890
NM_000545.8(HNF1A):c.1139_1149del (p.Val380fs)
NM_000545.8(HNF1A):c.1624-39C>G
NM_000545.8(HNF1A):c.311_316dup (p.Glu105_Thr106insMetGlu)
NM_000545.8(HNF1A):c.814C>T (p.Arg272Cys)	rs1555212014
NM_000545.8(HNF1A):c.864delinsCC (p.Gly292fs)	rs1593058932
NM_000545.8(HNF1A):c.872del (p.Pro291fs)	rs587776825
NM_000545.8(HNF1A):c.942del (p.Ser315fs)

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.