ClinVar Miner

List of variants reported as likely pathogenic for Steel syndrome

Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 23
Download table as spreadsheet
HGVS dbSNP gnomAD frequency
NM_032888.4(COL27A1):c.3439G>T (p.Gly1147Ter) rs1328051341 0.00001
NM_032888.4(COL27A1):c.3616del (p.Arg1206fs) rs1835450838 0.00001
NM_032888.4(COL27A1):c.1216C>T (p.Gln406Ter) rs1849088219
NM_032888.4(COL27A1):c.1734_1737dup (p.Pro580fs)
NM_032888.4(COL27A1):c.211del (p.Gln71fs) rs2490547878
NM_032888.4(COL27A1):c.2320C>T (p.Arg774Ter) rs1465820080
NM_032888.4(COL27A1):c.2367G>A (p.Pro789=) rs1830319943
NM_032888.4(COL27A1):c.2728-1G>A
NM_032888.4(COL27A1):c.3010G>T (p.Glu1004Ter)
NM_032888.4(COL27A1):c.3083dup (p.Met1029fs) rs2135531602
NM_032888.4(COL27A1):c.358C>T (p.Gln120Ter) rs2490550913
NM_032888.4(COL27A1):c.4020del (p.Pro1342fs) rs2131616036
NM_032888.4(COL27A1):c.4152+1G>A rs2131618521
NM_032888.4(COL27A1):c.4357dup (p.Ala1453fs) rs1564576546
NM_032888.4(COL27A1):c.4495G>T (p.Gly1499Ter)
NM_032888.4(COL27A1):c.4726dup (p.Leu1576fs)
NM_032888.4(COL27A1):c.4854del (p.Gly1620fs) rs2490365600
NM_032888.4(COL27A1):c.4939_4940del
NM_032888.4(COL27A1):c.4979_4983del (p.Gly1660fs) rs1829064231
NM_032888.4(COL27A1):c.5117G>A (p.Trp1706Ter)
NM_032888.4(COL27A1):c.600del (p.Lys201fs)
NM_032888.4(COL27A1):c.62+1G>T rs1848097390
NM_032888.4(COL27A1):c.62+1del rs756877794

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.