ClinVar Miner

List of variants in gene PIK3R2 studied for not specified

Minimum submission review status: Collection method:
Minimum conflict level:
Gene type:
ClinVar version:
Total variants: 21
Download table as spreadsheet
HGVS dbSNP gnomAD frequency
NM_005027.4(PIK3R2):c.937T>C (p.Ser313Pro) rs1011320 0.95640
NM_005027.4(PIK3R2):c.1911T>C (p.Ser637=) rs273269 0.85794
NM_005027.4(PIK3R2):c.2127C>T (p.Thr709=) rs112813367 0.04637
NM_005027.4(PIK3R2):c.2179G>A (p.Ala727Thr) rs149081991 0.03829
NM_005027.4(PIK3R2):c.903G>A (p.Ala301=) rs28730848 0.03749
NM_005027.4(PIK3R2):c.415+18dup rs200295171 0.00675
NM_005027.4(PIK3R2):c.160G>A (p.Val54Met) rs201370957 0.00233
NM_005027.4(PIK3R2):c.*6G>A rs557654906 0.00130
NM_005027.4(PIK3R2):c.10C>T (p.Pro4Ser) rs142933317 0.00080
NM_005027.4(PIK3R2):c.817A>T (p.Ser273Cys) rs147990742 0.00055
NM_005027.4(PIK3R2):c.1023C>T (p.Asn341=) rs201900751 0.00041
NM_005027.4(PIK3R2):c.1243G>A (p.Ala415Thr) rs200178501 0.00025
NM_005027.4(PIK3R2):c.1076G>C (p.Ser359Thr) rs1041937206 0.00005
NM_005027.4(PIK3R2):c.1291-11C>T rs565676027 0.00003
NM_005027.4(PIK3R2):c.893C>T (p.Ala298Val) rs148193042 0.00003
NM_005027.4(PIK3R2):c.975G>A (p.Leu325=) rs376737972 0.00003
NM_005027.4(PIK3R2):c.2148G>A (p.Val716=) rs1599991733 0.00001
NM_005027.4(PIK3R2):c.1216C>G (p.Arg406Gly) rs149367522
NM_005027.4(PIK3R2):c.1330G>A (p.Ala444Thr)
NM_005027.4(PIK3R2):c.55C>A (p.Arg19=) rs779519249
NM_005027.4(PIK3R2):c.909G>A (p.Pro303=)

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.