ClinVar Miner

List of variants in gene MCPH1 reported as likely benign by Illumina Laboratory Services, Illumina

Minimum submission review status: Collection method:
Minimum conflict level:
Gene type:
ClinVar version:
Total variants: 7
Download table as spreadsheet
HGVS dbSNP gnomAD frequency
NM_024596.5(MCPH1):c.23-15A>G rs146351889 0.01440
NM_024596.5(MCPH1):c.2453-13G>A rs111713406 0.00748
NM_024596.5(MCPH1):c.*199G>A rs17317651 0.00596
NM_024596.5(MCPH1):c.1845A>C (p.Thr615=) rs186547090 0.00403
NM_024596.5(MCPH1):c.1495G>A (p.Val499Met) rs146586991 0.00302
NM_024596.5(MCPH1):c.1349A>C (p.Lys450Thr) rs77959215 0.00160
NM_024596.5(MCPH1):c.1351G>A (p.Glu451Lys) rs202004426

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.