ClinVar Miner

List of variants reported as uncertain significance for Snijders Blok-Campeau syndrome by New York Genome Center

Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 11
Download table as spreadsheet
HGVS dbSNP gnomAD frequency
NM_001005273.3(CHD3):c.1282G>A (p.Val428Ile) rs141138068 0.00002
NM_001005271.3(CHD3):c.250C>T (p.Pro84Ser) rs1329540442 0.00001
NM_001005273.3(CHD3):c.2084C>T (p.Pro695Leu) rs1969954027 0.00001
NM_001005273.3(CHD3):c.211C>T (p.Arg71Cys) rs758150597 0.00001
NM_001005273.3(CHD3):c.4861G>A (p.Val1621Met) rs1281078302 0.00001
NM_001005273.3(CHD3):c.4945G>C (p.Glu1649Gln) rs749147376 0.00001
NM_001005273.3(CHD3):c.214-5C>T rs2151465885
NM_001005273.3(CHD3):c.3377G>C (p.Gly1126Ala) rs1274009768
NM_001005273.3(CHD3):c.4361C>T (p.Ala1454Val)
NM_001005273.3(CHD3):c.4556C>G (p.Pro1519Arg) rs1567868694
NM_001005273.3(CHD3):c.4788+6T>A rs1401481408

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.