ClinVar Miner

List of variants reported as uncertain significance for Fanconi renotubular syndrome 4 with maturity-onset diabetes of the young

Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 8
Download table as spreadsheet
HGVS dbSNP gnomAD frequency
NM_175914.5(HNF4A):c.341G>A (p.Arg114Gln) rs149611886 0.00001
NM_175914.5(HNF4A):c.714G>C (p.Glu238Asp) rs1259110384 0.00001
NM_000336.3(SCNN1B):c.1513C>T (p.Arg505Cys)
NM_175914.5(HNF4A):c.1118A>G (p.Gln373Arg)
NM_175914.5(HNF4A):c.2T>C (p.Met1Thr) rs1229650809
NM_175914.5(HNF4A):c.50-4560G>A rs1254732171
NM_175914.5(HNF4A):c.607G>A (p.Gly203Ser) rs2146437968
NM_175914.5(HNF4A):c.944TGC[4] (p.Leu319del) rs776489992

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.