ClinVar Miner

List of variants in gene combination DNASE1L1, TAFAZZIN reported as likely benign for classic organic aciduria

Included ClinVar conditions (39):
Minimum submission review status: Collection method:
Minimum conflict level:
Gene type:
ClinVar version:
Total variants: 8
Download table as spreadsheet
NM_000116.5(TAFAZZIN):c.-88G>C rs113130344
NM_000116.5(TAFAZZIN):c.110-6C>T rs782099193
NM_000116.5(TAFAZZIN):c.123C>T (p.His41=) rs368329470
NM_000116.5(TAFAZZIN):c.48C>G (p.Thr16=) rs397515743
NM_000116.5(TAFAZZIN):c.54C>T (p.Thr18=)
NM_000116.5(TAFAZZIN):c.69C>T (p.Val23=) rs782123597
NM_000116.5(TAFAZZIN):c.79T>C (p.Leu27=) rs782716787

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.