ClinVar Miner

List of variants in gene FLNA reported as pathogenic by GeneDx

Minimum submission review status: Collection method:
Minimum conflict level:
Gene type:
ClinVar version:
Total variants: 24
Download table as spreadsheet
HGVS dbSNP gnomAD frequency
NM_001110556.2(FLNA):c.1119C>A (p.Tyr373Ter)
NM_001110556.2(FLNA):c.1675C>T (p.Gln559Ter)
NM_001110556.2(FLNA):c.1923C>T (p.Gly641=) rs80338841
NM_001110556.2(FLNA):c.2366_2367insT (p.Thr790fs) rs1064795350
NM_001110556.2(FLNA):c.2566-2A>G rs1064796581
NM_001110556.2(FLNA):c.257AGA[2] (p.Lys88del) rs2148121907
NM_001110556.2(FLNA):c.3408dup (p.Asn1137fs) rs863223645
NM_001110556.2(FLNA):c.3562G>A (p.Ala1188Thr) rs28935472
NM_001110556.2(FLNA):c.3775C>T (p.Gln1259Ter) rs1557177663
NM_001110556.2(FLNA):c.3921del (p.Tyr1308fs) rs863223632
NM_001110556.2(FLNA):c.4071_4074dup (p.Arg1359fs) rs863223633
NM_001110556.2(FLNA):c.4519C>T (p.Gln1507Ter) rs886041771
NM_001110556.2(FLNA):c.4543C>T (p.Arg1515Ter) rs186214592
NM_001110556.2(FLNA):c.4659del (p.Leu1555fs) rs1603360547
NM_001110556.2(FLNA):c.5930_5942del (p.Glu1977fs) rs886041710
NM_001110556.2(FLNA):c.620C>T (p.Pro207Leu) rs28935469
NM_001110556.2(FLNA):c.6227-2A>G rs1557176076
NM_001110556.2(FLNA):c.6387dup (p.Phe2130fs) rs863223634
NM_001110556.2(FLNA):c.6455C>G (p.Ser2152Ter) rs1557176001
NM_001110556.2(FLNA):c.6601del (p.Arg2201fs) rs863223646
NM_001110556.2(FLNA):c.6635_6638del (p.Val2212fs) rs786205178
NM_001110556.2(FLNA):c.7153C>T (p.Gln2385Ter) rs727503931
NM_001110556.2(FLNA):c.7255C>T (p.Arg2419Ter) rs782308324
NM_001456.3(FLNA):c.2828delG rs1057518626

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.