ClinVar Miner

List of variants in gene FLNA studied for Oto-palato-digital syndrome, type I

Minimum submission review status: Collection method:
Minimum conflict level:
Gene type:
ClinVar version:
Total variants: 10
Download table as spreadsheet
HGVS dbSNP gnomAD frequency
NM_001110556.2(FLNA):c.1373T>C (p.Val458Ala)
NM_001110556.2(FLNA):c.166C>T (p.His56Tyr)
NM_001110556.2(FLNA):c.2309A>G (p.Asn770Ser) rs1557178374
NM_001110556.2(FLNA):c.3364T>G (p.Cys1122Gly)
NM_001110556.2(FLNA):c.5162del (p.Val1721fs) rs2067650699
NM_001110556.2(FLNA):c.5488G>C (p.Val1830Leu)
NM_001110556.2(FLNA):c.586C>T (p.Arg196Trp) rs137853317
NM_001110556.2(FLNA):c.607G>T (p.Asp203Tyr) rs137853314
NM_001110556.2(FLNA):c.620C>T (p.Pro207Leu) rs28935469
NM_001110556.2(FLNA):c.6372C>G (p.His2124Gln) rs781999359

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.