ClinVar Miner

List of variants in gene TEK reported as uncertain significance for cardiovascular disorder

Included ClinVar conditions (1435):
Minimum submission review status: Collection method:
Minimum conflict level:
Gene type:
ClinVar version:
Total variants: 36
Download table as spreadsheet
HGVS dbSNP gnomAD frequency
NM_000459.5(TEK):c.*788_*789del rs140755654 0.00104
NM_000459.5(TEK):c.*330A>G rs748110091 0.00065
NM_000459.5(TEK):c.*287C>T rs562001960 0.00033
NM_000459.5(TEK):c.2773G>A (p.Ala925Thr) rs138463877 0.00014
NM_000459.5(TEK):c.2227G>A (p.Gly743Arg) rs767813511 0.00008
NM_000459.5(TEK):c.-354A>G rs886063815 0.00004
NM_000459.5(TEK):c.-326A>G rs147620532 0.00003
NM_000459.5(TEK):c.1446A>G (p.Leu482=) rs370562453 0.00003
NM_000459.5(TEK):c.1834G>A (p.Val612Met) rs764571511 0.00002
NM_000459.5(TEK):c.*230T>C rs886063826 0.00001
NM_000459.5(TEK):c.*674G>A rs1826497387 0.00001
NM_000459.5(TEK):c.*684C>A rs886063830 0.00001
NM_000459.5(TEK):c.*708G>A rs1239716955 0.00001
NM_000459.5(TEK):c.1694C>G (p.Pro565Arg) rs780560474 0.00001
NM_000459.5(TEK):c.2814C>G (p.Ser938=) rs886063825 0.00001
NM_000459.5(TEK):c.2827C>T (p.His943Tyr) rs143080429 0.00001
NM_000459.5(TEK):c.3099C>T (p.Ser1033=) rs1370470466 0.00001
NM_000459.5(TEK):c.*257T>A rs886063827
NM_000459.5(TEK):c.*558T>C rs886063829
NM_000459.5(TEK):c.*862G>C rs915216413
NM_000459.5(TEK):c.*904T>G rs886063831
NM_000459.5(TEK):c.-96G>A rs534352362
NM_000459.5(TEK):c.1087A>G (p.Ser363Gly) rs1824476725
NM_000459.5(TEK):c.1236C>T (p.His412=) rs886063820
NM_000459.5(TEK):c.1885C>T (p.Leu629Phe) rs1825075746
NM_000459.5(TEK):c.1973C>A (p.Ser658Tyr) rs886063822
NM_000459.5(TEK):c.2040T>C (p.Asn680=) rs1251094590
NM_000459.5(TEK):c.2125C>A (p.Gln709Lys) rs1825275848
NM_000459.5(TEK):c.2444T>C (p.Ile815Thr) rs777012163
NM_000459.5(TEK):c.2575+3C>T rs1204233152
NM_000459.5(TEK):c.2575+4A>G rs779970349
NM_000459.5(TEK):c.2604C>T (p.Asp868=) rs886063823
NM_000459.5(TEK):c.2718C>G (p.Pro906=) rs886063824
NM_000459.5(TEK):c.3252dup (p.Phe1085fs) rs1564115375
NM_000459.5(TEK):c.3347T>C (p.Ile1116Thr) rs1564116253
NM_000459.5(TEK):c.365-5A>G rs1823823054

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.