ClinVar Miner

List of variants in gene FLNC reported as pathogenic by Invitae

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Total variants: 44
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HGVS dbSNP
NC_000007.13:g.(?_128470672)_(128498597_?)del
NM_001127487.2(FLNC):c.147delinsTCT (p.Lys51fs) rs1562988883
NM_001127487.2(FLNC):c.7235_7236AC[2] (p.Pro2414fs)
NM_001458.4(FLNC):c.1444C>T (p.Arg482Ter) rs1420159591
NM_001458.4(FLNC):c.1519_1525del (p.Gly507fs) rs1554398092
NM_001458.4(FLNC):c.1605C>A (p.Cys535Ter) rs199976790
NM_001458.4(FLNC):c.1861_1885dup (p.Arg629fs)
NM_001458.4(FLNC):c.1948C>T (p.Arg650Ter) rs770606675
NM_001458.4(FLNC):c.2065G>T (p.Glu689Ter) rs1446694237
NM_001458.4(FLNC):c.2390-10_2406del rs1554398674
NM_001458.4(FLNC):c.3039C>A (p.Cys1013Ter) rs1554399014
NM_001458.4(FLNC):c.3180del (p.Asp1061fs) rs1064795229
NM_001458.4(FLNC):c.3557C>T (p.Ala1186Val) rs1114167361
NM_001458.4(FLNC):c.3791-1G>C rs781135153
NM_001458.4(FLNC):c.3934_3937dup (p.Arg1313fs) rs1554399513
NM_001458.4(FLNC):c.3937C>T (p.Arg1313Ter)
NM_001458.4(FLNC):c.4127+1G>T
NM_001458.4(FLNC):c.4333_4336del (p.Gly1444_Lys1445insTer) rs1562998858
NM_001458.4(FLNC):c.444G>A (p.Trp148Ter) rs1554397197
NM_001458.4(FLNC):c.4621A>T (p.Lys1541Ter) rs1562999451
NM_001458.4(FLNC):c.4716del (p.Leu1573fs) rs1554400021
NM_001458.4(FLNC):c.4729C>T (p.Gln1577Ter)
NM_001458.4(FLNC):c.4926_4927insACGTCACA (p.Val1643fs) rs1402879259
NM_001458.4(FLNC):c.4969C>T (p.Arg1657Ter) rs1563000044
NM_001458.4(FLNC):c.5165del (p.Gly1722fs) rs1554400242
NM_001458.4(FLNC):c.554G>A (p.Trp185Ter)
NM_001458.4(FLNC):c.5653A>T (p.Lys1885Ter) rs1563001456
NM_001458.4(FLNC):c.5672delG rs1563001548
NM_001458.4(FLNC):c.5675_5678del (p.Leu1892fs)
NM_001458.4(FLNC):c.5697dup (p.Ser1900fs) rs1554400700
NM_001458.4(FLNC):c.5904dup (p.Ile1969fs)
NM_001458.4(FLNC):c.6242dup (p.Ser2082fs)
NM_001458.4(FLNC):c.6447del (p.Ile2150fs) rs1563003153
NM_001458.4(FLNC):c.6883C>T (p.Gln2295Ter)
NM_001458.4(FLNC):c.6976C>T (p.Arg2326Ter) rs748416758
NM_001458.4(FLNC):c.697C>T (p.Gln233Ter) rs1554397464
NM_001458.4(FLNC):c.7251+1G>A rs1554401581
NM_001458.4(FLNC):c.7294C>T (p.Gln2432Ter) rs1554401756
NM_001458.4(FLNC):c.7365C>A (p.Tyr2455Ter)
NM_001458.4(FLNC):c.7371del (p.Glu2458fs) rs1554401780
NM_001458.4(FLNC):c.7496_7497insTGCT (p.Gln2499fs) rs1554401830
NM_001458.4(FLNC):c.7536_7548del (p.Pro2513fs) rs1554401837
NM_001458.4(FLNC):c.774del (p.Lys259fs) rs1554397506
NM_001458.4(FLNC):c.805C>T (p.Arg269Ter) rs755583250

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