ClinVar Miner

List of variants in gene TBX1 reported as benign for DiGeorge sequence

Minimum submission review status: Collection method:
Minimum conflict level:
Gene type:
ClinVar version:
Total variants: 17
Download table as spreadsheet
NM_005992.1(TBX1):c.188_190CGC[6] (p.Pro67dup) rs1009463279
NM_080647.1(TBX1):c.-39C>T rs72646950
NM_080647.1(TBX1):c.1211C>G (p.Ala404Gly) rs557935727
NM_080647.1(TBX1):c.1215C>T (p.Pro405=) rs200135498
NM_080647.1(TBX1):c.1287C>T (p.Ala429=) rs574947516
NM_080647.1(TBX1):c.1353T>C (p.His451=) rs367711718
NM_080647.1(TBX1):c.1397C>T (p.Ala466Val) rs753613632
NM_080647.1(TBX1):c.297G>A (p.Ala99=) rs72646953
NM_080647.1(TBX1):c.309_311del rs369050575
NM_080647.1(TBX1):c.321G>A (p.Val107=) rs148928907
NM_080647.1(TBX1):c.444C>T (p.Phe148=) rs139776757
NM_080647.1(TBX1):c.492G>A (p.Pro164=) rs111754814
NM_080647.1(TBX1):c.63G>T (p.Leu21=) rs770754649
NM_080647.1(TBX1):c.678C>T (p.Asn226=) rs149453540
NM_080647.1(TBX1):c.813C>T (p.Thr271=) rs61730282
NM_080647.1(TBX1):c.927C>T (p.Pro309=) rs201607803
NM_080647.1(TBX1):c.928G>A (p.Gly310Ser) rs41298838

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.