ClinVar Miner

List of variants in gene FLNB reported as uncertain significance for Larsen syndrome

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Total variants: 13
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HGVS dbSNP gnomAD frequency
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.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.4427A>G (p.Asp1476Gly)
NM_001457.4(FLNB):c.4570G>C (p.Gly1524Arg)
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.545T>G (p.Leu182Arg)
NM_001457.4(FLNB):c.6994G>A (p.Glu2332Lys)
NM_001457.4(FLNB):c.7624T>C (p.Ser2542Pro)

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