ClinVar Miner

List of variants studied for maturity-onset diabetes of the young by Baylor Genetics

Included ClinVar conditions (40):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 16
Download table as spreadsheet
HGVS dbSNP gnomAD frequency
NM_003597.5(KLF11):c.266C>T (p.Ala89Val) rs766187124 0.00007
NM_000545.8(HNF1A):c.827C>G (p.Ala276Gly) rs137853245 0.00003
NM_001807.6(CEL):c.1402G>A (p.Ala468Thr) rs777913068 0.00002
NM_001715.3(BLK):c.677A>C (p.Gln226Pro) rs551088779 0.00001
NM_000162.5(GCK):c.1155del (p.Leu386fs) rs1400535021
NM_000162.5(GCK):c.391T>C (p.Ser131Pro) rs104894010
NM_000162.5(GCK):c.683C>T (p.Thr228Met) rs80356655
NM_000162.5(GCK):c.692A>T (p.Asn231Ile)
NM_000458.4(HNF1B):c.395A>G (p.His132Arg)
NM_000458.4(HNF1B):c.515del (p.Tyr172fs)
NM_000545.8(HNF1A):c.1136_1137del (p.Pro379fs) rs1593060890
NM_000545.8(HNF1A):c.1324C>T (p.Gln442Ter)
NM_000545.8(HNF1A):c.58G>A (p.Gly20Arg) rs1249563793
NM_001715.3(BLK):c.84C>A (p.Val28=) rs1585387563
NM_001807.6(CEL):c.2029G>T (p.Gly677Trp) rs984492184
NM_175914.5(HNF4A):c.187C>T (p.Arg63Trp) rs587777732

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.