ClinVar Miner

List of variants studied for Focal segmental glomerulosclerosis 1 by Bioscientia Institut fuer Medizinische Diagnostik GmbH,Sonic Healthcare

Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 7
Download table as spreadsheet
HGVS dbSNP
NM_001025616.3(ARHGAP24):c.892C>T (p.Arg298Cys) rs143423680
NM_004924.6(ACTN4):c.1279G>A (p.Ala427Thr) rs201128110
NM_004924.6(ACTN4):c.1826A>G (p.Asn609Ser)
NM_004924.6(ACTN4):c.236G>A (p.Arg79Gln)
NM_004924.6(ACTN4):c.458T>C (p.Phe153Ser) rs1568723797
NM_004924.6(ACTN4):c.510_512del (p.Leu171del) rs1568725026
NM_004924.6(ACTN4):c.832G>A (p.Ala278Thr)

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.