List of variants in gene COL27A1, LOC126860736 studied for Steel syndrome

Minimum submission review status:		Collection method:
Minimum conflict level: Report conflict between different conditions
Gene type: Distinguish antisense genes from sense genes
		ClinVar version:

Total variants: 8

Download table as spreadsheet

HGVS	dbSNP	gnomAD frequency
NM_032888.4(COL27A1):c.4061G>A (p.Arg1354Gln)	rs10982134	0.31600
NM_032888.4(COL27A1):c.4206+39A>G	rs1249742	0.21363
NM_032888.4(COL27A1):c.4083A>G (p.Gly1361=)	rs1687410	0.19349
NM_032888.4(COL27A1):c.4152+24C>A	rs10817583	0.13647
NM_032888.4(COL27A1):c.4066G>C (p.Asp1356His)	rs149434700	0.00053
NM_032888.4(COL27A1):c.4020del (p.Pro1342fs)	rs2131616036
NM_032888.4(COL27A1):c.4060C>T (p.Arg1354Ter)	rs753461513
NM_032888.4(COL27A1):c.4206+11C>G	rs72762675

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.