ClinVar Miner

Variants in gene TSPEAR with conflicting interpretations "uncertain significance" and "likely benign"

Submission 1 (uncertain significance) minimum review status: Submission 1 (uncertain significance) method:
Submission 2 (likely benign) minimum review status: Submission 2 (likely benign) method:
Gene type:
ClinVar version:
Total variants with conflicting interpretations: 16
Download table as spreadsheet
HGVS dbSNP gnomAD frequency
NM_144991.3(TSPEAR):c.1915G>A (p.Asp639Asn) rs138480801 0.00244
NM_144991.3(TSPEAR):c.170G>A (p.Arg57Gln) rs151001222 0.00210
NM_144991.3(TSPEAR):c.343G>A (p.Asp115Asn) rs144586270 0.00189
NM_144991.3(TSPEAR):c.1566+5G>A rs117034581 0.00147
NM_144991.3(TSPEAR):c.151G>A (p.Val51Ile) rs150016894 0.00129
NM_144991.3(TSPEAR):c.169C>T (p.Arg57Trp) rs140542643 0.00093
NM_144991.3(TSPEAR):c.364C>T (p.Arg122Trp) rs146257403 0.00067
NM_144991.3(TSPEAR):c.1778C>T (p.Ser593Leu) rs143840354 0.00056
NM_144991.3(TSPEAR):c.668C>T (p.Ser223Leu) rs149481227 0.00053
NM_144991.3(TSPEAR):c.365G>A (p.Arg122Gln) rs141753295 0.00051
NM_144991.3(TSPEAR):c.943G>A (p.Val315Met) rs148421362 0.00051
NM_144991.3(TSPEAR):c.1979T>G (p.Leu660Arg) rs140818230 0.00050
NM_144991.3(TSPEAR):c.791-14G>C rs199699551 0.00043
NM_144991.3(TSPEAR):c.418G>A (p.Ala140Thr) rs148967240 0.00042
NM_144991.3(TSPEAR):c.419C>A (p.Ala140Asp) rs147904376 0.00034
NM_144991.3(TSPEAR):c.41C>T (p.Ala14Val) rs140778310 0.00003

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.