ClinVar Miner

List of variants in gene HNF1B, LOC126862549 studied for Renal cysts and diabetes syndrome; Type 2 diabetes mellitus; Nonpapillary renal cell carcinoma

Minimum submission review status: Collection method:
Minimum conflict level:
Gene type:
ClinVar version:
Total variants: 18
Download table as spreadsheet
HGVS dbSNP gnomAD frequency
NM_000458.4(HNF1B):c.660T>C (p.Asp220=) rs779375959 0.00007
NM_000458.4(HNF1B):c.780G>C (p.Glu260Asp) rs536638039 0.00005
NM_000458.4(HNF1B):c.723G>A (p.Ala241=) rs768490293 0.00004
NM_000458.4(HNF1B):c.721G>A (p.Ala241Thr) rs761415487 0.00002
NM_000458.4(HNF1B):c.592A>C (p.Ser198Arg) rs1321074352 0.00001
NM_000458.4(HNF1B):c.558_561del (p.Val187fs)
NM_000458.4(HNF1B):c.577A>T (p.Met193Leu)
NM_000458.4(HNF1B):c.578T>C (p.Met193Thr) rs760079000
NM_000458.4(HNF1B):c.601C>G (p.Gln201Glu)
NM_000458.4(HNF1B):c.622G>C (p.Glu208Gln)
NM_000458.4(HNF1B):c.634C>T (p.Gln212Ter) rs2147553451
NM_000458.4(HNF1B):c.657C>T (p.Ser219=) rs148713761
NM_000458.4(HNF1B):c.658G>A (p.Asp220Asn)
NM_000458.4(HNF1B):c.658G>C (p.Asp220His) rs377555356
NM_000458.4(HNF1B):c.694C>T (p.Arg232Cys) rs766793933
NM_000458.4(HNF1B):c.695G>A (p.Arg232His)
NM_000458.4(HNF1B):c.754C>T (p.Arg252Trp) rs748416956
NM_000458.4(HNF1B):c.809+1G>A rs1555830002

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.