ClinVar Miner

List of variants reported as likely pathogenic for canthal anomaly by Invitae

Included ClinVar conditions (57):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 27
Download table as spreadsheet
HGVS dbSNP
NC_000005.10:g.(?_150396282)_(150399070_?)del
NC_000005.10:g.(?_150399002)_(150399068_?)del
NC_000011.9:g.(?_71146411)_(71152496_?)del
NM_000356.4(TCOF1):c.378+1G>A rs1581064385
NM_001360.2(DHCR7):c.1057del (p.Val353fs) rs759720450
NM_001360.2(DHCR7):c.1138T>C (p.Cys380Arg) rs373306653
NM_001360.2(DHCR7):c.1146C>A (p.Tyr382Ter) rs1555145605
NM_001360.2(DHCR7):c.1348del (p.Arg450fs) rs886042362
NM_001360.2(DHCR7):c.413-2A>G rs775575609
NM_001360.2(DHCR7):c.438T>G (p.Asn146Lys) rs949177
NM_001360.2(DHCR7):c.440G>A (p.Gly147Asp) rs777425801
NM_001360.2(DHCR7):c.627-1G>A rs1057517210
NM_001360.2(DHCR7):c.831+2T>A rs1057516920
NM_001360.2(DHCR7):c.839A>G (p.Tyr280Cys) rs121909766
NM_001360.2(DHCR7):c.852C>A (p.Phe284Leu) rs184297154
NM_001360.3(DHCR7):c.1219A>T (p.Asn407Tyr) rs770819693
NM_001360.3(DHCR7):c.1324C>G (p.His442Asp)
NM_001360.3(DHCR7):c.1328G>T (p.Arg443Leu)
NM_001360.3(DHCR7):c.1337G>C (p.Arg446Pro)
NM_001360.3(DHCR7):c.322-1G>A
NM_001360.3(DHCR7):c.374A>G (p.Tyr125Cys)
NM_001360.3(DHCR7):c.820_825del (p.Asn274_Val275del)
NM_001360.3(DHCR7):c.952T>A (p.Tyr318Asn)
NM_001360.3(DHCR7):c.98+2_98+6del
NM_001371623.1(TCOF1):c.109-3del
NM_001371623.1(TCOF1):c.89T>G (p.Val30Gly)
NM_006939.4(SOS2):c.800T>G (p.Met267Arg) rs797045167

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.