ClinVar Miner

List of variants reported as likely pathogenic for Snijders blok-campeau syndrome

Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 13
Download table as spreadsheet
NM_001005271.3(CHD3):c.2834A>G (p.His945Arg) rs1567855081
NM_001005271.3(CHD3):c.3073C>T (p.Arg1025Trp) rs1064795892
NM_001005271.3(CHD3):c.3074G>A (p.Arg1025Gln) rs1555611692
NM_001005271.3(CHD3):c.4202G>A (p.Arg1401Gln) rs1567863732
NM_001005273.2(CHD3):c.2761G>A (p.Glu921Lys) rs1567855704
NM_001005273.2(CHD3):c.2882G>A (p.Gly961Glu) rs1567856045
NM_001005273.2(CHD3):c.3407C>T (p.Thr1136Ile) rs1567860640
NM_001005273.2(CHD3):c.3482A>G (p.His1161Arg) rs1567860919
NM_001005273.2(CHD3):c.3512A>G (p.His1171Arg) rs1567861489
NM_001005273.2(CHD3):c.3707T>C (p.Leu1236Pro) rs1567861894
NM_001005273.2(CHD3):c.5642G>T (p.Arg1881Leu) rs1567877108
NM_001005273.3(CHD3):c.3359A>T (p.Asp1120Val)
NM_005852.4(CHD3):c.3357_3358delinsTC (p.Asp1120His) rs1567860075

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.