ClinVar Miner

List of variants studied for autoimmune lymphoproliferative syndrome type 2B by Baylor Genetics

Included ClinVar conditions (2):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 5
Download table as spreadsheet
HGVS dbSNP gnomAD frequency
NM_001372051.1(CASP8):c.443A>G (p.Lys148Arg) rs148697064 0.00019
NM_001372051.1(CASP8):c.432A>G (p.Ile144Met) rs149933993 0.00017
NM_001228.5(CASP8):c.-26-8118G>A rs376887804 0.00007
NM_001372051.1(CASP8):c.120T>G (p.Asp40Glu) rs759793127 0.00002
NM_001372051.1(CASP8):c.1430C>T (p.Pro477Leu) rs1294147397

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.