ClinVar Miner

List of variants studied for Beck-Fahrner syndrome by New York Genome Center

Included ClinVar conditions (1):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 8
Download table as spreadsheet
HGVS dbSNP gnomAD frequency
NM_001287491.2(TET3):c.881T>C (p.Val294Ala) rs927433947 0.00004
NM_001287491.2(TET3):c.3584C>T (p.Ala1195Val) rs756361815 0.00003
NM_001287491.2(TET3):c.3040-8C>T rs912764133 0.00001
NM_001287491.2(TET3):c.-425+1G>T rs2105049195
NM_001287491.2(TET3):c.3542T>C (p.Leu1181Pro) rs762454349
NM_001287491.2(TET3):c.3604+7G>T rs776625317
NM_001287491.2(TET3):c.3966C>G (p.His1322Gln) rs768193705
NM_001287491.2(TET3):c.4184C>T (p.Ser1395Phe) rs762846019

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.