ClinVar Miner

List of variants in gene SH3PXD2B reported as uncertain significance by GeneDx

Minimum submission review status: Collection method:
Minimum conflict level:
Gene type:
ClinVar version:
Total variants: 13
Download table as spreadsheet
HGVS dbSNP gnomAD frequency
NM_001017995.3(SH3PXD2B):c.1021A>G (p.Lys341Glu) rs145343254 0.00019
NM_001017995.3(SH3PXD2B):c.2572G>A (p.Val858Met) rs758060713 0.00005
NM_001017995.3(SH3PXD2B):c.45G>A (p.Val15=) rs1201658186 0.00003
NM_001017995.3(SH3PXD2B):c.1186G>A (p.Glu396Lys) rs369123624 0.00002
NM_001017995.3(SH3PXD2B):c.128G>A (p.Arg43Gln) rs781377610 0.00001
NM_001017995.3(SH3PXD2B):c.1342C>T (p.Arg448Trp) rs552171716 0.00001
NM_001017995.3(SH3PXD2B):c.2670G>C (p.Gln890His) rs1172633904 0.00001
NM_001017995.3(SH3PXD2B):c.433G>A (p.Asp145Asn) rs149830191 0.00001
NM_001017995.3(SH3PXD2B):c.1256C>A (p.Ala419Asp)
NM_001017995.3(SH3PXD2B):c.1372A>G (p.Asn458Asp) rs2113256198
NM_001017995.3(SH3PXD2B):c.1678A>T (p.Ile560Phe) rs1581259156
NM_001017995.3(SH3PXD2B):c.2618G>C (p.Gly873Ala) rs1428244591
NM_001017995.3(SH3PXD2B):c.664G>A (p.Glu222Lys)

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.