ClinVar Miner

List of variants in gene FLNC reported as pathogenic by Ambry Genetics

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Gene type:
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Total variants: 49
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HGVS dbSNP gnomAD frequency
NM_001458.5(FLNC):c.3791-1G>C rs781135153 0.00001
NM_001458.5(FLNC):c.1069C>T (p.Gln357Ter) rs2128934390
NM_001458.5(FLNC):c.1274del (p.Glu425fs)
NM_001458.5(FLNC):c.1497del (p.Phe500fs)
NM_001458.5(FLNC):c.1749del (p.Gly584fs)
NM_001458.5(FLNC):c.1756del (p.Val586fs)
NM_001458.5(FLNC):c.1837C>T (p.Gln613Ter)
NM_001458.5(FLNC):c.1948C>T (p.Arg650Ter) rs770606675
NM_001458.5(FLNC):c.1994_1995delinsAA (p.Cys665Ter)
NM_001458.5(FLNC):c.2499C>A (p.Tyr833Ter) rs1389742580
NM_001458.5(FLNC):c.2809C>T (p.Gln937Ter)
NM_001458.5(FLNC):c.3014C>A (p.Ser1005Ter)
NM_001458.5(FLNC):c.302_306delinsTGT (p.Ser101fs)
NM_001458.5(FLNC):c.3123_3126del (p.Tyr1042fs)
NM_001458.5(FLNC):c.338del (p.Lys113fs)
NM_001458.5(FLNC):c.3557C>T (p.Ala1186Val) rs1114167361
NM_001458.5(FLNC):c.3695_3698del (p.Gly1232fs) rs2128936511
NM_001458.5(FLNC):c.3855del (p.Asn1286fs)
NM_001458.5(FLNC):c.3901_3904del (p.Asp1301fs)
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.4059_4060del (p.Arg1354fs)
NM_001458.5(FLNC):c.4060C>T (p.Arg1354Ter) rs138193236
NM_001458.5(FLNC):c.4108C>T (p.Arg1370Ter) rs1342121466
NM_001458.5(FLNC):c.4219_4220delinsA (p.Val1407fs)
NM_001458.5(FLNC):c.4621A>T (p.Lys1541Ter) rs1562999451
NM_001458.5(FLNC):c.488_491dup (p.Leu165fs)
NM_001458.5(FLNC):c.4926_4927insACGTCACA (p.Val1643fs) rs1402879259
NM_001458.5(FLNC):c.4946del (p.Gly1649fs) rs1282619643
NM_001458.5(FLNC):c.4969C>T (p.Arg1657Ter) rs1563000044
NM_001458.5(FLNC):c.531del (p.Ile178fs) rs2128933676
NM_001458.5(FLNC):c.5417C>A (p.Ser1806Ter)
NM_001458.5(FLNC):c.5559T>G (p.Tyr1853Ter)
NM_001458.5(FLNC):c.555G>A (p.Trp185Ter) rs2128933685
NM_001458.5(FLNC):c.5778C>G (p.Tyr1926Ter)
NM_001458.5(FLNC):c.5926C>T (p.Gln1976Ter)
NM_001458.5(FLNC):c.600dup (p.Gly201fs)
NM_001458.5(FLNC):c.6190dup (p.Val2064fs) rs1808888920
NM_001458.5(FLNC):c.6279del (p.Asp2093fs)
NM_001458.5(FLNC):c.6976C>T (p.Arg2326Ter) rs748416758
NM_001458.5(FLNC):c.711del (p.Glu238fs)
NM_001458.5(FLNC):c.7235_7236del (p.Thr2412fs)
NM_001458.5(FLNC):c.7327del (p.Arg2443fs)
NM_001458.5(FLNC):c.7371del (p.Glu2458fs) rs1554401780
NM_001458.5(FLNC):c.7374del (p.Glu2458fs)
NM_001458.5(FLNC):c.778del (p.Ala260fs)
NM_001458.5(FLNC):c.805C>T (p.Arg269Ter) rs755583250
NM_001458.5(FLNC):c.985_986dup (p.Asn329fs)

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