ClinVar Miner

List of variants in gene SAMHD1 reported as likely benign for Chilblain lupus 2

Minimum submission review status: Collection method:
Minimum conflict level:
Gene type:
ClinVar version:
Total variants: 5
Download table as spreadsheet
HGVS dbSNP gnomAD frequency
NM_015474.4(SAMHD1):c.334G>A (p.Val112Ile) rs144353824 0.00029
NM_015474.4(SAMHD1):c.1393C>A (p.Gln465Lys) rs142393072 0.00012
NM_015474.4(SAMHD1):c.697-11A>G rs200458478 0.00011
NM_015474.4(SAMHD1):c.401G>A (p.Arg134Gln) rs767413799 0.00006
NM_015474.4(SAMHD1):c.993C>T (p.Tyr331=) rs775726168 0.00004

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.