List of variants in gene PPP2R2A studied for Hereditary breast ovarian cancer syndrome

Minimum submission review status:		Collection method:
Minimum conflict level: Report conflict between different conditions
Gene type: Distinguish antisense genes from sense genes
		ClinVar version:

Total variants: 16

Download table as spreadsheet

HGVS	dbSNP	gnomAD frequency
NM_002717.4(PPP2R2A):c.1065-51A>C	rs3824232	0.18592
NM_002717.4(PPP2R2A):c.1065-10A>G	rs3808565	0.07309
NM_002717.4(PPP2R2A):c.459+59A>C	rs17309515	0.04320
NM_002717.4(PPP2R2A):c.802+78A>G	rs17309592	0.03684
NM_002717.4(PPP2R2A):c.999C>T (p.Leu333=)	rs34109536	0.03045
NM_002717.4(PPP2R2A):c.82+26T>G	rs111586207	0.00543
NM_002717.4(PPP2R2A):c.82+11G>A	rs116762879	0.00155
NM_002717.4(PPP2R2A):c.1064+17T>C	rs1205387644	0.00001
NM_002717.4(PPP2R2A):c.1233C>T (p.Asp411=)	rs372679014	0.00001
NM_002717.4(PPP2R2A):c.1065-59del	rs142234242
NM_002717.4(PPP2R2A):c.1263C>T (p.His421=)	rs1019920773
NM_002717.4(PPP2R2A):c.18A>G (p.Gly6=)	rs1413011339
NM_002717.4(PPP2R2A):c.8-53G>C	rs572866422
NM_002717.4(PPP2R2A):c.82+57A>G	rs372615585
NM_002717.4(PPP2R2A):c.972+74C>G	rs74731529
NM_002717.4(PPP2R2A):c.973-38C>G	rs2117424696

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.