ClinVar Miner

List of variants in gene INSR reported as pathogenic for Pineal hyperplasia AND diabetes mellitus syndrome

Minimum submission review status: Collection method:
Minimum conflict level:
Gene type:
ClinVar version:
Total variants: 8
Download table as spreadsheet
HGVS dbSNP
NM_000208.2:c.[2504G>T;2525C>T]
NM_000208.2:c.[766C>T;2997T>G]
NM_000208.4(INSR):c.1124-2A>G rs587776819
NM_000208.4(INSR):c.126C>A (p.Asn42Lys) rs121913143
NM_000208.4(INSR):c.2030_2267+1del
NM_000208.4(INSR):c.2480_2487del (p.Gln827fs) rs587776820
NM_000208.4(INSR):c.3079C>T (p.Arg1027Ter) rs121913144
NM_000208.4(INSR):c.394G>A (p.Gly132Ser) rs886037750

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.