ClinVar Miner

List of variants studied for Maturity onset diabetes mellitus in young by Molecular Genetics, Madras Diabetes Research Foundation

Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 14
Download table as spreadsheet
HGVS dbSNP gnomAD frequency
NM_000545.8(HNF1A):c.1061C>T (p.Thr354Met) rs757068809 0.00006
NM_000525.4(KCNJ11):c.1084G>A (p.Ala362Thr) rs755839409 0.00001
NM_000545.8(HNF1A):c.340C>T (p.Arg114Cys) rs774996577 0.00001
NM_000545.8(HNF1A):c.812G>A (p.Arg271Gln) rs779184183 0.00001
NM_000545.8(HNF1A):c.901G>A (p.Ala301Thr) rs555681479 0.00001
NM_000352.6(ABCC8):c.2912A>T (p.Glu971Val) rs1431503235
NM_000458.4(HNF1B):c.494G>A (p.Arg165His)
NM_000458.4(HNF1B):c.961A>G (p.Asn321Asp) rs1208894321
NM_000545.8(HNF1A):c.338G>A (p.Trp113Ter) rs2135832456
NM_000545.8(HNF1A):c.511C>G (p.Arg171Gly) rs1057520291
NM_000545.8(HNF1A):c.703G>C (p.Glu235Gln) rs1353807357
NM_000545.8(HNF1A):c.733G>A (p.Gly245Arg) rs2135841196
NM_000545.8(HNF1A):c.788G>A (p.Arg263His) rs1057520504
NM_000545.8(HNF1A):c.815G>A (p.Arg272His) rs137853238

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.