ClinVar Miner

List of variants in gene SMC1A reported as likely benign for Cornelia de Lange Syndrome

Minimum submission review status: Collection method:
Minimum conflict level:
Gene type:
ClinVar version:
Total variants: 29
Download table as spreadsheet
HGVS dbSNP
NM_001281463.1(SMC1A):c.*4952_*4953del rs782700101
NM_001281463.1(SMC1A):c.2131-5T>C rs2297104
NM_006306.3(SMC1A):c.*1239T>C rs782502306
NM_006306.3(SMC1A):c.*14C>T rs112727682
NM_006306.3(SMC1A):c.*2423G>A rs147324052
NM_006306.3(SMC1A):c.*2540C>G rs182535846
NM_006306.3(SMC1A):c.*2589A>G rs782291666
NM_006306.3(SMC1A):c.*2609A>C rs192734396
NM_006306.3(SMC1A):c.*2856A>T rs148128199
NM_006306.3(SMC1A):c.*2948G>T rs183355603
NM_006306.3(SMC1A):c.*2973C>T rs56110615
NM_006306.3(SMC1A):c.*3421G>T rs41304780
NM_006306.3(SMC1A):c.*381A>G rs184957599
NM_006306.3(SMC1A):c.*3838G>A rs144702614
NM_006306.3(SMC1A):c.*3851A>T rs782817464
NM_006306.3(SMC1A):c.*41G>A rs782548345
NM_006306.3(SMC1A):c.*4645T>C rs150365487
NM_006306.3(SMC1A):c.*5016T>C rs17002602
NM_006306.3(SMC1A):c.*5197T>C rs782050365
NM_006306.3(SMC1A):c.*5380G>A rs186354950
NM_006306.3(SMC1A):c.*5444G>A rs181871602
NM_006306.3(SMC1A):c.*5481G>A rs147896900
NM_006306.3(SMC1A):c.*703G>T rs189126241
NM_006306.3(SMC1A):c.*96C>T rs139317060
NM_006306.3(SMC1A):c.1173G>A (p.Gln391=) rs147952638
NM_006306.3(SMC1A):c.1254+11G>C rs144354524
NM_006306.3(SMC1A):c.3450C>T (p.Ala1150=) rs142611198
NM_006306.3(SMC1A):c.3591C>T (p.Ala1197=) rs146216425
NM_006306.3(SMC1A):c.412-10C>T rs149219651

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.