ClinVar Miner

List of variants studied for lymphoid system disorder by Institute for Medical Genetics and Human Genetics, Charité - Universitätsmedizin Berlin

Included ClinVar conditions (123):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 6
Download table as spreadsheet
HGVS dbSNP gnomAD frequency
NM_006767.4(LZTR1):c.2044A>G (p.Lys682Glu) rs758472207 0.00001
NM_006767.4(LZTR1):c.993+1G>A rs770368435 0.00001
NM_001378328.1(CELSR1):c.7797C>A (p.Asn2599Lys)
NM_002834.5(PTPN11):c.124A>G (p.Thr42Ala) rs397507501
NM_002834.5(PTPN11):c.155C>T (p.Thr52Ile) rs397507503
NM_005633.4(SOS1):c.508A>G (p.Lys170Glu) rs397517172

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.