ClinVar Miner

List of variants reported as benign for Bohring-Opitz syndrome by Illumina Clinical Services Laboratory,Illumina

Included ClinVar conditions (1):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 15
Download table as spreadsheet
HGVS dbSNP
NM_001164603.1(ASXL1):c.-93C>G rs534633106
NM_015338.5(ASXL1):c.*1238C>T rs142200477
NM_015338.5(ASXL1):c.*22A>G rs2295764
NM_015338.5(ASXL1):c.*278G>A rs75599685
NM_015338.5(ASXL1):c.*394A>G rs2295762
NM_015338.5(ASXL1):c.*90T>C rs2295763
NM_015338.5(ASXL1):c.1954G>A (p.Gly652Ser) rs3746609
NM_015338.5(ASXL1):c.2250C>T (p.Pro750=) rs35712951
NM_015338.5(ASXL1):c.2251G>A (p.Val751Ile) rs6058693
NM_015338.5(ASXL1):c.2985C>T (p.His995=) rs62206933
NM_015338.5(ASXL1):c.3519G>A (p.Leu1173=) rs117901891
NM_015338.5(ASXL1):c.3692C>T (p.Ser1231Phe) rs74638057
NM_015338.5(ASXL1):c.3759T>C (p.Ser1253=) rs4911231
NM_015338.5(ASXL1):c.3973C>T (p.Leu1325Phe) rs6057581
NM_015338.5(ASXL1):c.582C>T (p.His194=) rs116633791

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.