ClinVar Miner

List of variants in gene PSTPIP1 reported as uncertain significance for not provided

Minimum submission review status: Collection method:
Minimum conflict level:
Gene type:
ClinVar version:
Total variants: 37
Download table as spreadsheet
HGVS dbSNP gnomAD frequency
NM_003978.5(PSTPIP1):c.1213C>T (p.Arg405Cys) rs201253322 0.00049
NM_003978.5(PSTPIP1):c.418-6C>A rs200018722 0.00034
NM_003978.5(PSTPIP1):c.1208G>A (p.Gly403Glu) rs201572812 0.00026
NM_003978.5(PSTPIP1):c.1105G>A (p.Asp369Asn) rs372261106 0.00024
NM_003978.5(PSTPIP1):c.355-16C>G rs767272289 0.00015
NM_003978.5(PSTPIP1):c.1115C>T (p.Ala372Val) rs200188483 0.00014
NM_003978.5(PSTPIP1):c.1123C>G (p.Pro375Ala) rs781781950 0.00014
NM_003978.5(PSTPIP1):c.37T>G (p.Cys13Gly) rs376128040 0.00013
NM_003978.5(PSTPIP1):c.856A>G (p.Asn286Asp) rs377437961 0.00013
NM_003978.5(PSTPIP1):c.839C>T (p.Ala280Val) rs139351566 0.00009
NM_003978.5(PSTPIP1):c.307C>T (p.Arg103Trp) rs768395688 0.00008
NM_003978.5(PSTPIP1):c.-123G>A rs771172891 0.00005
NM_003978.5(PSTPIP1):c.1222G>A (p.Val408Ile) rs750572947 0.00005
NM_003978.5(PSTPIP1):c.566G>A (p.Arg189Gln) rs375294517 0.00003
NM_003978.5(PSTPIP1):c.82C>T (p.Arg28Trp) rs767330325 0.00003
NM_003978.5(PSTPIP1):c.247+1G>A rs573784011 0.00002
NM_003978.5(PSTPIP1):c.668G>A (p.Arg223Gln) rs777380464 0.00002
NM_003978.5(PSTPIP1):c.764C>T (p.Thr255Met) rs766895096 0.00002
NM_003978.5(PSTPIP1):c.1043T>C (p.Ile348Thr) rs1309288797 0.00001
NM_003978.5(PSTPIP1):c.146C>T (p.Ala49Val) rs756426938 0.00001
NM_003978.5(PSTPIP1):c.478C>A (p.Arg160Ser) rs1397291808 0.00001
NM_001411086.1(PSTPIP1):c.986-9_986-8del rs2076551553
NM_003978.5(PSTPIP1):c.1115C>A (p.Ala372Glu) rs200188483
NM_003978.5(PSTPIP1):c.1124C>T (p.Pro375Leu) rs1338203882
NM_003978.5(PSTPIP1):c.228C>T (p.Ser76=)
NM_003978.5(PSTPIP1):c.247+2T>G rs1385788673
NM_003978.5(PSTPIP1):c.247C>A (p.Gln83Lys) rs377719165
NM_003978.5(PSTPIP1):c.330G>C (p.Glu110Asp) rs2076261367
NM_003978.5(PSTPIP1):c.434A>G (p.Glu145Gly) rs2152686006
NM_003978.5(PSTPIP1):c.53C>A (p.Ala18Asp)
NM_003978.5(PSTPIP1):c.560C>G (p.Ala187Gly) rs2152686807
NM_003978.5(PSTPIP1):c.680T>C (p.Leu227Pro)
NM_003978.5(PSTPIP1):c.706A>C (p.Asn236His)
NM_003978.5(PSTPIP1):c.720G>T (p.Met240Ile)
NM_003978.5(PSTPIP1):c.787_788del (p.Ala263fs) rs1064797201
NM_003978.5(PSTPIP1):c.7C>T (p.Pro3Ser) rs1057519224
NM_003978.5(PSTPIP1):c.821C>T (p.Thr274Met) rs2076440871

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.