ClinVar Miner

List of variants studied for Intellectual disability, autosomal recessive 53 by Neuberg Centre For Genomic Medicine, NCGM

Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 4
Download table as spreadsheet
HGVS dbSNP gnomAD frequency
NM_001127178.3(PIGG):c.2624_2625del (p.Gly874_Leu875insTer) rs771819481 0.00002
NM_001127178.3(PIGG):c.1221G>T (p.Lys407Asn) rs763590962
NM_001127178.3(PIGG):c.1907G>T (p.Gly636Val) rs745714290
NM_001127178.3(PIGG):c.768_769dup (p.Thr257fs) rs1229339759

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.