ClinVar Miner

List of variants in gene FLNB studied for Larsen syndrome

Minimum submission review status: Collection method:
Minimum conflict level:
Gene type:
ClinVar version:
Total variants: 36
Download table as spreadsheet
HGVS dbSNP gnomAD frequency
NM_001457.4(FLNB):c.6956T>C (p.Ile2319Thr) rs116826041 0.00739
NM_001457.4(FLNB):c.1298C>A (p.Ala433Asp) rs1455523738 0.00003
NM_001457.4(FLNB):c.5059T>C (p.Tyr1687His) rs774862180 0.00001
NM_001457.4(FLNB):c.1081G>A (p.Gly361Ser) rs80356509
NM_001457.4(FLNB):c.1082G>A (p.Gly361Asp) rs794727854
NM_001457.4(FLNB):c.1088G>A (p.Gly363Glu) rs80356510
NM_001457.4(FLNB):c.1346-2A>G rs757004353
NM_001457.4(FLNB):c.199C>T (p.His67Tyr) rs751371914
NM_001457.4(FLNB):c.3173C>T (p.Pro1058Leu)
NM_001457.4(FLNB):c.4229C>G (p.Pro1410Arg) rs2107204256
NM_001457.4(FLNB):c.4292T>G (p.Leu1431Arg) rs80356511
NM_001457.4(FLNB):c.4427A>G (p.Asp1476Gly)
NM_001457.4(FLNB):c.4550C>A (p.Ala1517Asp) rs372940610
NM_001457.4(FLNB):c.4570G>A (p.Gly1524Ser) rs2107220190
NM_001457.4(FLNB):c.4570G>C (p.Gly1524Arg)
NM_001457.4(FLNB):c.4604G>A (p.Ser1535Asn)
NM_001457.4(FLNB):c.4625T>C (p.Ile1542Thr) rs1356745912
NM_001457.4(FLNB):c.4713_4715del (p.Asn1571del) rs80356512
NM_001457.4(FLNB):c.4756G>A (p.Gly1586Arg) rs80356513
NM_001457.4(FLNB):c.4775T>A (p.Val1592Asp) rs80356514
NM_001457.4(FLNB):c.4808C>T (p.Pro1603Leu) rs80356515
NM_001457.4(FLNB):c.482T>G (p.Phe161Cys) rs80356506
NM_001457.4(FLNB):c.4928C>T (p.Ala1643Val) rs868820857
NM_001457.4(FLNB):c.4967A>T (p.Asp1656Val) rs201848913
NM_001457.4(FLNB):c.501C>A (p.Asp167Glu) rs746892435
NM_001457.4(FLNB):c.502G>A (p.Gly168Ser) rs80356504
NM_001457.4(FLNB):c.5071G>A (p.Gly1691Ser) rs80356503
NM_001457.4(FLNB):c.5072G>A (p.Gly1691Asp) rs1553704446
NM_001457.4(FLNB):c.545T>G (p.Leu182Arg)
NM_001457.4(FLNB):c.5465G>A (p.Gly1822Glu)
NM_001457.4(FLNB):c.5500G>A (p.Gly1834Arg) rs80356516
NM_001457.4(FLNB):c.591T>A (p.Asn197Lys) rs1274950884
NM_001457.4(FLNB):c.679G>A (p.Glu227Lys) rs80356508
NM_001457.4(FLNB):c.6994G>A (p.Glu2332Lys)
NM_001457.4(FLNB):c.700C>G (p.Leu234Val) rs80356507
NM_001457.4(FLNB):c.7624T>C (p.Ser2542Pro)

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.