ClinVar Miner

List of variants in gene TULP1 reported as not provided by Retina International

Minimum submission review status: Collection method:
Minimum conflict level:
Gene type:
ClinVar version:
Total variants: 16
Download table as spreadsheet
HGVS dbSNP gnomAD frequency
NM_003322.6(TULP1):c.776T>C (p.Ile259Thr) rs2064317 0.36637
NM_003322.6(TULP1):c.1362G>A (p.Thr454=) rs41270076 0.03061
NM_003322.6(TULP1):c.1486G>A (p.Ala496Thr) rs141980901 0.00107
NM_003322.6(TULP1):c.1496-6C>A rs281865171 0.00011
NM_003322.6(TULP1):c.1495+1G>A rs281865168 0.00003
NM_003322.6(TULP1):c.1466A>G (p.Lys489Arg) rs62636511 0.00002
NM_003322.6(TULP1):c.1375A>C (p.Ile459Leu) rs281865533 0.00001
NM_003322.6(TULP1):c.1259G>C (p.Arg420Pro) rs121909073
NM_003322.6(TULP1):c.350-2_350del rs281865167
NM_003322.6(TULP1):c.371_394del (p.Asp124_Glu131del) rs281865169
NM_003322.6(TULP1):c.719-19T>A rs281865170
NM_003322.6(TULP1):c.734C>T (p.Ala245Val) rs62636707
NM_003322.6(TULP1):c.805A>C (p.Lys269Gln) rs62636514
NM_003322.6(TULP1):c.823-4A>C rs200264819
NM_003322.6(TULP1):c.901del (p.Gln301fs) rs62636292
NM_003322.6(TULP1):c.99+1G>A rs281865166

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.