List of variants in gene HNF1A reported as uncertain significance for Maturity-onset diabetes of the young type 3

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: 63

Download table as spreadsheet

HGVS	dbSNP	gnomAD frequency
NM_000545.8(HNF1A):c.1541A>G (p.His514Arg)	rs202039659	0.00028
NM_000545.8(HNF1A):c.586A>G (p.Thr196Ala)	rs139712739	0.00024
NM_000545.8(HNF1A):c.693G>A (p.Thr231=)	rs145240086	0.00017
NM_000545.8(HNF1A):c.716C>T (p.Ala239Val)	rs587778397	0.00016
NM_000545.8(HNF1A):c.1624-19G>A	rs193922586	0.00011
NM_000545.8(HNF1A):c.42G>A (p.Ala14=)	rs775391034	0.00007
NM_000545.8(HNF1A):c.1061C>T (p.Thr354Met)	rs757068809	0.00006
NM_000545.8(HNF1A):c.1729C>G (p.His577Asp)	rs376832928	0.00006
NM_000545.8(HNF1A):c.954C>T (p.His318=)	rs193922607	0.00006
NM_000545.8(HNF1A):c.99G>A (p.Pro33=)	rs538619966	0.00006
NM_000545.8(HNF1A):c.1310-12C>T	rs193922579	0.00004
NM_000545.8(HNF1A):c.1498C>A (p.His500Asn)	rs921423540	0.00004
NM_000545.8(HNF1A):c.1624-15G>A	rs193922585	0.00004
NM_000545.8(HNF1A):c.481G>A (p.Ala161Thr)	rs201095611	0.00004
NM_000545.8(HNF1A):c.962G>A (p.Arg321His)	rs751761766	0.00004
NM_000545.8(HNF1A):c.139G>C (p.Gly47Arg)	rs373180062	0.00003
NM_000545.8(HNF1A):c.1522G>A (p.Glu508Lys)	rs483353044	0.00003
NM_000545.8(HNF1A):c.30G>A (p.Thr10=)	rs746020457	0.00003
NM_000545.8(HNF1A):c.499G>A (p.Val167Ile)	rs371759652	0.00003
NM_000545.8(HNF1A):c.1274C>T (p.Thr425Met)	rs1401743626	0.00002
NM_000545.8(HNF1A):c.1400C>T (p.Pro467Leu)	rs764483607	0.00002
NM_000545.8(HNF1A):c.1533G>A (p.Gln511=)	rs147198532	0.00002
NM_000545.8(HNF1A):c.1576G>A (p.Asp526Asn)	rs1315721381	0.00002
NM_000545.8(HNF1A):c.1592G>C (p.Ser531Thr)	rs137853246	0.00002
NM_000545.8(HNF1A):c.216C>T (p.Asp72=)	rs148961412	0.00002
NM_000545.8(HNF1A):c.29C>T (p.Thr10Met)	rs774637975	0.00002
NM_000545.8(HNF1A):c.-4A>G	rs561269721	0.00001
NM_000545.8(HNF1A):c.1494C>A (p.Ser498Arg)	rs138145827	0.00001
NM_000545.8(HNF1A):c.1501G>A (p.Ala501Thr)	rs371807951	0.00001
NM_000545.8(HNF1A):c.1537A>T (p.Thr513Ser)	rs753702603	0.00001
NM_000545.8(HNF1A):c.1573A>T (p.Thr525Ser)	rs759717253	0.00001
NM_000545.8(HNF1A):c.1583C>T (p.Thr528Ile)	rs775608608	0.00001
NM_000545.8(HNF1A):c.1663C>T (p.Leu555Phe)	rs193922587	0.00001
NM_000545.8(HNF1A):c.1695C>T (p.Leu565=)	rs762669462	0.00001
NM_000545.8(HNF1A):c.340C>T (p.Arg114Cys)	rs774996577	0.00001
NM_000545.8(HNF1A):c.503G>A (p.Arg168His)	rs377110124	0.00001
NM_000545.8(HNF1A):c.50T>A (p.Leu17His)	rs1480672278	0.00001
NM_000545.8(HNF1A):c.713+14C>T	rs193922601	0.00001
NM_000545.8(HNF1A):c.932C>A (p.Ala311Asp)	rs757574765	0.00001
NM_000545.8(HNF1A):c.1060A>G (p.Thr354Ala)	rs1877098583
NM_000545.8(HNF1A):c.1135C>A (p.Pro379Thr)	rs754729248
NM_000545.8(HNF1A):c.1135C>G (p.Pro379Ala)	rs754729248
NM_000545.8(HNF1A):c.1235T>C (p.Met412Thr)	rs747433197
NM_000545.8(HNF1A):c.1459A>G (p.Ser487Gly)
NM_000545.8(HNF1A):c.1544_1545delinsGA (p.Thr515Arg)
NM_000545.8(HNF1A):c.1594G>A (p.Ala532Thr)	rs1421619915
NM_000545.8(HNF1A):c.1687A>G (p.Thr563Ala)	rs1877313665
NM_000545.8(HNF1A):c.1727A>C (p.Gln576Pro)	rs1877318918
NM_000545.8(HNF1A):c.1731C>A (p.His577Gln)	rs1877319456
NM_000545.8(HNF1A):c.1747C>G (p.Arg583Gly)	rs137853239
NM_000545.8(HNF1A):c.1768+11C>T	rs886049034
NM_000545.8(HNF1A):c.1768+65dup	rs193922590
NM_000545.8(HNF1A):c.326+4A>G	rs193922595
NM_000545.8(HNF1A):c.327-14T>C	rs886049033
NM_000545.8(HNF1A):c.343G>T (p.Val115Leu)	rs1876667856
NM_000545.8(HNF1A):c.589AAG[1] (p.Lys198del)
NM_000545.8(HNF1A):c.60G>C (p.Gly20=)	rs1449504165
NM_000545.8(HNF1A):c.703G>C (p.Glu235Gln)	rs1353807357
NM_000545.8(HNF1A):c.823G>A (p.Glu275Lys)	rs2135841942
NM_000545.8(HNF1A):c.850_851del (p.Asp284fs)
NM_000545.8(HNF1A):c.862G>T (p.Gly288Trp)	rs539507291
NM_000545.8(HNF1A):c.866C>G (p.Pro289Arg)	rs267603343
NM_000545.8(HNF1A):c.871C>A (p.Pro291Thr)	rs151256267

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.