ClinVar Miner

List of variants reported as benign for 3MC syndrome by ARUP Laboratories, Molecular Genetics and Genomics, ARUP Laboratories

Included ClinVar conditions (4):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 4
Download table as spreadsheet
HGVS dbSNP gnomAD frequency
NM_001879.6(MASP1):c.1703T>C (p.Val568Ala) rs13322090 0.01525
NM_139125.4(MASP1):c.1277G>A (p.Gly426Glu) rs28945068 0.01228
NM_139125.4(MASP1):c.1090+2877G>A rs113938200 0.00638
NM_001879.6(MASP1):c.1528A>G (p.Ser510Gly) rs28945070 0.00176

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.