ClinVar Miner

List of variants reported as likely benign for Frank-Ter Haar syndrome

Included ClinVar conditions (1):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 23
Download table as spreadsheet
HGVS dbSNP
NM_001017995.3(SH3PXD2B):c.*1478T>C
NM_001017995.3(SH3PXD2B):c.*171G>A
NM_001017995.3(SH3PXD2B):c.*235T>C rs147011482
NM_001017995.3(SH3PXD2B):c.*2538T>C
NM_001017995.3(SH3PXD2B):c.*2666G>T
NM_001017995.3(SH3PXD2B):c.*3006C>T rs539299765
NM_001017995.3(SH3PXD2B):c.*306C>A rs142853015
NM_001017995.3(SH3PXD2B):c.*3202C>T rs180938966
NM_001017995.3(SH3PXD2B):c.*3629C>A
NM_001017995.3(SH3PXD2B):c.*3815del rs151201604
NM_001017995.3(SH3PXD2B):c.*3989G>A
NM_001017995.3(SH3PXD2B):c.*642C>T rs192181401
NM_001017995.3(SH3PXD2B):c.*789T>A rs150961242
NM_001017995.3(SH3PXD2B):c.*843G>A rs143482443
NM_001017995.3(SH3PXD2B):c.*957C>T rs79360524
NM_001017995.3(SH3PXD2B):c.*958G>A rs76230855
NM_001017995.3(SH3PXD2B):c.1672G>A (p.Gly558Ser)
NM_001017995.3(SH3PXD2B):c.1712C>T (p.Pro571Leu) rs111230322
NM_001017995.3(SH3PXD2B):c.1983C>T (p.Val661=) rs73317798
NM_001017995.3(SH3PXD2B):c.2227G>A (p.Val743Met) rs141103005
NM_001017995.3(SH3PXD2B):c.2477C>T (p.Pro826Leu) rs73317796
NM_001017995.3(SH3PXD2B):c.430G>T (p.Gly144Cys) rs368080609
NM_001017995.3(SH3PXD2B):c.843G>A (p.Glu281=) rs138021995

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.