ClinVar Miner

List of variants reported as uncertain significance for Alport syndrome by Sydney Genome Diagnostics, Children's Hospital Westmead

Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 9
Download table as spreadsheet
HGVS dbSNP gnomAD frequency
NM_000092.5(COL4A4):c.2241C>T (p.Pro747=) rs374510402 0.00048
NM_000091.5(COL4A3):c.4981C>T (p.Arg1661Cys) rs201697532 0.00039
NM_000092.5(COL4A4):c.4394G>A (p.Gly1465Asp) rs533297350 0.00004
NM_000092.5(COL4A4):c.4198A>G (p.Arg1400Gly) rs749483911 0.00003
NM_033380.3(COL4A5):c.2329C>T (p.Arg777Cys) rs779033931 0.00001
NM_000091.5(COL4A3):c.4462G>C (p.Gly1488Arg) rs1574840156
NM_033380.3(COL4A5):c.1033-3A>G rs2066339277
NM_033380.3(COL4A5):c.434C>T (p.Pro145Leu) rs2066063898
NM_033380.3(COL4A5):c.5074T>A (p.Ter1692Lys) rs2068734296

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.