ClinVar Miner

List of variants in gene FLNC reported as likely pathogenic for not provided

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Gene type:
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Total variants: 44
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HGVS dbSNP gnomAD frequency
NM_001458.5(FLNC):c.6889G>A (p.Val2297Met) rs1420394583 0.00001
NM_001458.5(FLNC):c.1948C>T (p.Arg650Ter) rs770606675
NM_001458.5(FLNC):c.1965_1966del (p.Ala656fs) rs1585156450
NM_001458.5(FLNC):c.1971del (p.His657fs)
NM_001458.5(FLNC):c.2265+1G>T
NM_001458.5(FLNC):c.263del (p.Pro88fs)
NM_001458.5(FLNC):c.2655dup (p.Lys886fs)
NM_001458.5(FLNC):c.2795dup (p.Tyr932Ter) rs1562995883
NM_001458.5(FLNC):c.2838T>A (p.Tyr946Ter) rs769390195
NM_001458.5(FLNC):c.3180del (p.Asp1061fs) rs1064795229
NM_001458.5(FLNC):c.3193-2A>G rs749889670
NM_001458.5(FLNC):c.3934_3937dup (p.Arg1313fs) rs1554399513
NM_001458.5(FLNC):c.3937C>T (p.Arg1313Ter) rs766330686
NM_001458.5(FLNC):c.4021C>T (p.Arg1341Ter) rs1562998062
NM_001458.5(FLNC):c.4456+1G>A rs1318885805
NM_001458.5(FLNC):c.4621A>T (p.Lys1541Ter) rs1562999451
NM_001458.5(FLNC):c.4716del (p.Leu1573fs) rs1554400021
NM_001458.5(FLNC):c.477_478del (p.Gln159fs) rs1585151245
NM_001458.5(FLNC):c.4926_4927insACGTCACA (p.Val1643fs) rs1402879259
NM_001458.5(FLNC):c.4951+2T>C rs1585164316
NM_001458.5(FLNC):c.4952-2A>T rs774945928
NM_001458.5(FLNC):c.4969C>T (p.Arg1657Ter) rs1563000044
NM_001458.5(FLNC):c.5165del (p.Gly1722fs) rs1554400242
NM_001458.5(FLNC):c.5478T>G (p.Tyr1826Ter) rs371167779
NM_001458.5(FLNC):c.5754T>A (p.Tyr1918Ter) rs764539989
NM_001458.5(FLNC):c.577G>A (p.Ala193Thr) rs387906587
NM_001458.5(FLNC):c.5810T>A (p.Ile1937Asn) rs1585166795
NM_001458.5(FLNC):c.584T>G (p.Val195Gly) rs1808061980
NM_001458.5(FLNC):c.6031G>A (p.Gly2011Arg) rs1554400962
NM_001458.5(FLNC):c.6190dup (p.Val2064fs) rs1808888920
NM_001458.5(FLNC):c.6306_6309del (p.Thr2103fs) rs2128939113
NM_001458.5(FLNC):c.6451G>A (p.Gly2151Ser) rs1563003159
NM_001458.5(FLNC):c.6864_6867dup (p.Val2290fs) rs2128939508
NM_001458.5(FLNC):c.6998-2A>G rs2128939599
NM_001458.5(FLNC):c.7195del (p.Val2399fs) rs1809007869
NM_001458.5(FLNC):c.7365del (p.Cys2454_Tyr2455insTer)
NM_001458.5(FLNC):c.752T>C (p.Met251Thr) rs387906586
NM_001458.5(FLNC):c.7561+1G>A rs1585172022
NM_001458.5(FLNC):c.7687T>C (p.Tyr2563His) rs1470053697
NM_001458.5(FLNC):c.7700_7703dup (p.Gly2569fs)
NM_001458.5(FLNC):c.7841_7842del (p.Val2614fs) rs1554402003
NM_001458.5(FLNC):c.7929del (p.Leu2645fs) rs1554402015
NM_001458.5(FLNC):c.8076C>A (p.Tyr2692Ter) rs1563006133
NM_001458.5(FLNC):c.8107del (p.Asp2703fs) rs1563006160

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