ClinVar Miner

List of variants studied for mandibulofacial dysostosis by GeneReviews

Included ClinVar conditions (18):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 8
Download table as spreadsheet
HGVS dbSNP gnomAD frequency
NM_001371623.1(TCOF1):c.1021_1022del (p.Ser341fs) rs1763212034
NM_001371623.1(TCOF1):c.2490del (p.Pro830_Val831insTer)
NM_001371623.1(TCOF1):c.2853dup (p.Ala952fs)
NM_001371623.1(TCOF1):c.4372_4376del (p.Lys1458fs) rs587776582
NM_015972.4(POLR1D):c.163C>G (p.Leu55Val) rs587777841
NM_019014.6(POLR1B):c.2046T>A (p.Ser682Arg) rs1684443250
NM_019014.6(POLR1B):c.3007C>A (p.Arg1003Ser) rs1684813071
NM_019014.6(POLR1B):c.3007C>T (p.Arg1003Cys) rs1684813071

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.