ClinVar Miner

List of variants studied for microcephalic osteodysplastic primordial dwarfism by Neuberg Centre For Genomic Medicine, NCGM

Included ClinVar conditions (5):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 7
Download table as spreadsheet
HGVS dbSNP gnomAD frequency
NM_006031.6(PCNT):c.3710A>G (p.His1237Arg) rs761299168 0.00002
NM_006031.6(PCNT):c.5995-2A>C rs1174601545 0.00002
NM_006031.6(PCNT):c.1147G>T (p.Glu383Ter)
NM_006031.6(PCNT):c.428_466dup (p.Arg143_Gln155dup) rs759009997
NM_006031.6(PCNT):c.6024G>C (p.Leu2008Phe)
NM_006031.6(PCNT):c.8812G>A (p.Val2938Met)
NM_006031.6(PCNT):c.9535dup (p.Val3179fs) rs747058622

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.