ClinVar Miner

List of variants studied for hypersensitivity reaction disease by Mendelics

Included ClinVar conditions (32):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 17
Download table as spreadsheet
HGVS dbSNP gnomAD frequency
NM_001372051.1(CASP8):c.803-2986C>G rs372086843 0.00157
NM_032977.4(CASP10):c.-8+5G>A rs781551128 0.00034
NM_032977.4(CASP10):c.1202_1208del (p.Cys401fs) rs747900630 0.00033
NC_000001.11:g.172658929A>G rs895958192 0.00021
NM_032977.4(CASP10):c.440T>C (p.Met147Thr) rs121909776 0.00003
NM_032977.4(CASP10):c.325C>T (p.Arg109Ter) rs201601111 0.00002
NM_000043.6(FAS):c.178del (p.His60fs) rs1589465172
NM_000043.6(FAS):c.415del (p.Val139fs) rs1589478691
NM_000043.6(FAS):c.651+2_651+3insTGAAAT rs1589485636
NM_000043.6(FAS):c.748C>T (p.Arg250Ter) rs778993919
NM_000639.3(FASLG):c.209C>G (p.Pro70Arg) rs1317103645
NM_000639.3(FASLG):c.834A>T (p.Leu278Phe) rs1571333854
NM_001302746.1(FASLG):c.-187_-186GA[4] rs55853758
NM_001372051.1(CASP8):c.803-2881_803-2880insATCTATCAATGTTATGCCCACTGTGCTCTCCAGCTGTGGTCTG rs1559369386
NM_014009.4(FOXP3):c.1234del (p.Glu412fs) rs2147944106
NM_032977.4(CASP10):c.1321G>A (p.Ala441Thr) rs760580885
NM_032977.4(CASP10):c.1504del (p.Gln502fs) rs2126062115

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.