ClinVar Miner

List of variants in gene PSTPIP1 reported as uncertain significance by Illumina Clinical Services Laboratory,Illumina

Minimum submission review status: Collection method:
Minimum conflict level:
Gene type:
ClinVar version:
Total variants: 17
Download table as spreadsheet
NM_003978.5(PSTPIP1):c.*122G>A rs527679453
NM_003978.5(PSTPIP1):c.*123T>C rs886051494
NM_003978.5(PSTPIP1):c.-280_-276GCTGG[3] rs886051491
NM_003978.5(PSTPIP1):c.-367G>A rs886051490
NM_003978.5(PSTPIP1):c.1079C>T (p.Pro360Leu) rs768897476
NM_003978.5(PSTPIP1):c.1243A>C (p.Lys415Gln)
NM_003978.5(PSTPIP1):c.1248T>C (p.Leu416=) rs556322755
NM_003978.5(PSTPIP1):c.307C>T (p.Arg103Trp) rs768395688
NM_003978.5(PSTPIP1):c.326G>A (p.Arg109His) rs772315853
NM_003978.5(PSTPIP1):c.364G>A (p.Val122Ile) rs886041107
NM_003978.5(PSTPIP1):c.411C>A (p.Ala137=)
NM_003978.5(PSTPIP1):c.418-4_418-3del rs749862420
NM_003978.5(PSTPIP1):c.475G>C (p.Glu159Gln) rs886051493
NM_003978.5(PSTPIP1):c.667C>T (p.Arg223Trp)
NM_003978.5(PSTPIP1):c.668G>A (p.Arg223Gln) rs777380464

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.