ClinVar Miner

List of variants in gene COL4A4 reported as likely pathogenic by Sydney Genome Diagnostics, Children's Hospital Westmead

Minimum submission review status: Collection method:
Minimum conflict level:
Gene type:
ClinVar version:
Total variants: 9
Download table as spreadsheet
HGVS dbSNP gnomAD frequency
NM_000092.5(COL4A4):c.2320G>C (p.Gly774Arg) rs569681869 0.00004
NM_000092.5(COL4A4):c.2752G>A (p.Gly918Arg) rs372606845 0.00002
NM_000092.5(COL4A4):c.1045C>T (p.Arg349Ter) rs534522842
NM_000092.5(COL4A4):c.158_159del (p.Ser53fs) rs2063103741
NM_000092.5(COL4A4):c.1652G>A (p.Gly551Asp) rs2059360185
NM_000092.5(COL4A4):c.3408del (p.Met1137fs) rs1971618196
NM_000092.5(COL4A4):c.3593_3594del (p.Gly1198fs) rs1968590611
NM_000092.5(COL4A4):c.81_86del (p.27IL[1]) rs771943519
NM_000092.5(COL4A4):c.995G>T (p.Gly332Val) rs2060521579

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.