ClinVar Miner

List of variants studied for autosomal recessive Alport syndrome by Bioscientia Institut fuer Medizinische Diagnostik GmbH,Sonic Healthcare

Included ClinVar conditions (3):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 11
Download table as spreadsheet
HGVS dbSNP
NM_000091.4(COL4A3):c.1909G>A (p.Gly637Arg) rs761686437
NM_000091.4(COL4A3):c.765G>A (p.Thr255=) rs869025328
NM_000091.4:c.1900G>A;c.1927G>A
NM_000092.4(COL4A4):c.2662G>A (p.Gly888Arg) rs1363277825
NM_000092.4(COL4A4):c.3089G>A (p.Gly1030Asp) rs772699709
NM_000092.4(COL4A4):c.446G>T (p.Gly149Val) rs374815903
NM_000092.4(COL4A4):c.4694_4713del (p.Arg1565fs) rs1553612433
NM_000092.4(COL4A4):c.4948T>C (p.Phe1650Leu) rs1553611876
NM_000092.5(COL4A4):c.3574_3577+8del rs1553627655
NM_000092.5(COL4A4):c.4333+3A>G rs1455105815
NM_000092.5(COL4A4):c.594+1G>A rs1553690565

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.