List of variants studied for maturity-onset diabetes of the young type 1 by Broad Center for Mendelian Genomics, Broad Institute of MIT and Harvard

Minimum submission review status:		Collection method:
Minimum conflict level: Report conflict between different conditions
		ClinVar version:

Total variants: 8

Download table as spreadsheet

HGVS	dbSNP	gnomAD frequency
NM_175914.5(HNF4A):c.863G>A (p.Arg288Gln)	rs371124358	0.00004
NM_175914.5(HNF4A):c.791A>G (p.Tyr264Cys)	rs748714111	0.00003
NM_000545.8(HNF1A):c.1573A>T (p.Thr525Ser)	rs759717253	0.00001
NM_175914.5(HNF4A):c.422G>A (p.Arg141Gln)	rs765237979
NM_175914.5(HNF4A):c.589C>A (p.Leu197Met)	rs1775879070
NM_175914.5(HNF4A):c.869G>A (p.Arg290His)	rs1191912908
NM_175914.5(HNF4A):c.926G>T (p.Arg309Leu)	rs369429452
NM_175914.5(HNF4A):c.932G>A (p.Arg311His)	rs1375557127

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.