ClinVar Miner

List of variants in gene RIPK1 studied for autoinflammation with episodic fever and lymphadenopathy

Included ClinVar conditions (2):
Minimum submission review status: Collection method:
Minimum conflict level:
Gene type:
ClinVar version:
Total variants: 9
Download table as spreadsheet
HGVS dbSNP gnomAD frequency
NM_001354930.2(RIPK1):c.84T>C (p.Phe28=) rs2272990 0.90445
NM_001354930.2(RIPK1):c.82T>C (p.Phe28Leu) rs146652253 0.00044
NM_001354930.2(RIPK1):c.368T>C (p.Ile123Thr) rs116603010 0.00001
NM_001354930.2(RIPK1):c.1935G>A (p.Thr645=) rs114183703
NM_001354930.2(RIPK1):c.607G>T (p.Ala203Ser) rs149432620
NM_001354930.2(RIPK1):c.970G>A (p.Asp324Asn) rs1760720617
NM_001354930.2(RIPK1):c.970G>C (p.Asp324His) rs1760720617
NM_001354930.2(RIPK1):c.970G>T (p.Asp324Tyr) rs1760720617
NM_001354930.2(RIPK1):c.971A>T (p.Asp324Val) rs1760720924

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.