ClinVar Miner

List of variants in gene FLNC reported by Joint Genome Diagnostic Labs from Nijmegen and Maastricht, Radboudumc and MUMC+

Minimum submission review status: Collection method:
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Gene type:
ClinVar version:
Total variants: 105
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HGVS dbSNP gnomAD frequency
NM_001458.5(FLNC):c.5398+16T>C rs13227216 0.32203
NM_001458.5(FLNC):c.3973C>T (p.Leu1325=) rs34373805 0.28610
NM_001458.5(FLNC):c.3297A>G (p.Val1099=) rs3734973 0.28603
NM_001458.5(FLNC):c.5763T>C (p.Thr1921=) rs3816884 0.18399
NM_001458.5(FLNC):c.2265+12C>G rs2291566 0.17192
NM_001458.5(FLNC):c.7221C>T (p.Asp2407=) rs3816885 0.15729
NM_001458.5(FLNC):c.4431G>A (p.Leu1477=) rs2291568 0.15512
NM_001458.5(FLNC):c.1032C>T (p.Val344=) rs2291562 0.12206
NM_001458.5(FLNC):c.1458C>A (p.Pro486=) rs2291563 0.11830
NM_001458.5(FLNC):c.720T>C (p.Ile240=) rs2291560 0.11080
NM_001458.5(FLNC):c.795T>C (p.Gly265=) rs2291561 0.10971
NM_001458.5(FLNC):c.147C>T (p.His49=) rs3734972 0.09267
NM_001458.5(FLNC):c.4056C>T (p.Arg1352=) rs75770585 0.08775
NM_001458.5(FLNC):c.850+18G>A rs55907818 0.08058
NM_001458.5(FLNC):c.4700G>A (p.Arg1567Gln) rs2291569 0.06258
NM_001458.5(FLNC):c.*1A>G rs114713626 0.05145
NM_001458.5(FLNC):c.3838C>T (p.Leu1280=) rs34180031 0.03419
NM_001458.5(FLNC):c.1614C>T (p.Tyr538=) rs76046880 0.02993
NM_001458.5(FLNC):c.5669-12C>T rs79790270 0.02786
NM_001458.5(FLNC):c.8121T>C (p.Ile2707=) rs28437296 0.01520
NM_001458.5(FLNC):c.1374C>T (p.Pro458=) rs115140972 0.01514
NM_001458.5(FLNC):c.8118C>T (p.Leu2706=) rs28379666 0.01465
NM_001458.5(FLNC):c.6004+19G>A rs12530507 0.01231
NM_001458.5(FLNC):c.2266-14G>C rs75612085 0.01030
NM_001458.5(FLNC):c.2390-14C>T rs71581921 0.00843
NM_001458.5(FLNC):c.6771A>G (p.Pro2257=) rs34422412 0.00842
NM_001458.5(FLNC):c.3721C>T (p.Arg1241Cys) rs146953558 0.00728
NM_001458.5(FLNC):c.5578C>T (p.Arg1860Cys) rs181067717 0.00536
NM_001458.5(FLNC):c.1902G>A (p.Glu634=) rs12536635 0.00414
NM_001458.5(FLNC):c.1549+15C>A rs181134489 0.00403
NM_001458.5(FLNC):c.1425C>T (p.Asn475=) rs143610360 0.00297
NM_001458.5(FLNC):c.2078A>C (p.Asp693Ala) rs34972246 0.00297
NM_001458.5(FLNC):c.4928-7T>C rs201957008 0.00286
NM_001458.5(FLNC):c.561C>T (p.Asp187=) rs149474376 0.00178
NM_001458.5(FLNC):c.2390-9T>C rs368068407 0.00168
NM_001458.5(FLNC):c.5644A>G (p.Ile1882Val) rs184018403 0.00160
NM_001458.5(FLNC):c.2389+12C>T rs370526829 0.00151
NM_001458.5(FLNC):c.1577G>A (p.Arg526Gln) rs34932223 0.00138
NM_001458.5(FLNC):c.2501C>T (p.Thr834Met) rs75133741 0.00136
NM_001458.5(FLNC):c.6459C>T (p.Thr2153=) rs113618587 0.00135
NM_001458.5(FLNC):c.6005-9T>C rs118124743 0.00133
NM_001458.5(FLNC):c.1813+11G>T rs138716837 0.00126
NM_001458.5(FLNC):c.597C>T (p.Ala199=) rs143942649 0.00124
NM_001458.5(FLNC):c.4947C>T (p.Gly1649=) rs201069454 0.00119
NM_001458.5(FLNC):c.6309C>T (p.Thr2103=) rs376992044 0.00116
NM_001458.5(FLNC):c.3000T>C (p.Asp1000=) rs184454068 0.00110
NM_001458.5(FLNC):c.5766G>A (p.Ala1922=) rs58914363 0.00108
NM_001458.5(FLNC):c.5418G>A (p.Ser1806=) rs376078394 0.00090
NM_001458.5(FLNC):c.7947C>T (p.Phe2649=) rs368849358 0.00083
NM_001458.5(FLNC):c.7990+9C>T rs566679569 0.00077
NM_001458.5(FLNC):c.6175G>A (p.Val2059Met) rs201333104 0.00076
NM_001458.5(FLNC):c.1519G>A (p.Gly507Arg) rs189525930 0.00060
NM_001458.5(FLNC):c.3966C>T (p.Gly1322=) rs200237564 0.00045
NM_001458.5(FLNC):c.6120C>T (p.Asp2040=) rs116974302 0.00039
NM_001458.5(FLNC):c.7991-19C>T rs537052947 0.00034
NM_001458.5(FLNC):c.294G>A (p.Glu98=) rs201839252 0.00029
NM_001458.5(FLNC):c.2733G>A (p.Lys911=) rs374135903 0.00024
NM_001458.5(FLNC):c.1434C>T (p.Arg478=) rs201810745 0.00023
NM_001458.5(FLNC):c.6888C>T (p.His2296=) rs375259002 0.00017
NM_001458.5(FLNC):c.4153C>T (p.Leu1385=) rs202125701 0.00016
NM_001458.5(FLNC):c.3153G>A (p.Pro1051=) rs373694043 0.00015
NM_001458.5(FLNC):c.5020G>A (p.Gly1674Ser) rs374124083 0.00014
NM_001458.5(FLNC):c.6594C>T (p.Gly2198=) rs754112206 0.00014
NM_001458.5(FLNC):c.600C>T (p.Pro200=) rs202105410 0.00013
NM_001458.5(FLNC):c.602-11C>T rs371111092 0.00010
NM_001458.5(FLNC):c.7289C>T (p.Ala2430Val) rs200516164 0.00010
NM_001458.5(FLNC):c.1605C>T (p.Cys535=) rs199976790 0.00009
NM_001458.5(FLNC):c.4914G>A (p.Lys1638=) rs371385321 0.00009
NM_001458.5(FLNC):c.4488T>C (p.Asn1496=) rs377258966 0.00008
NM_001458.5(FLNC):c.1885C>T (p.Arg629Trp) rs759376455 0.00006
NM_001458.5(FLNC):c.5468C>T (p.Thr1823Met) rs140857707 0.00006
NM_001458.5(FLNC):c.2041G>A (p.Gly681Ser) rs199705417 0.00005
NM_001458.5(FLNC):c.2490C>T (p.Thr830=) rs777580254 0.00005
NM_001458.5(FLNC):c.4054C>T (p.Arg1352Cys) rs367931139 0.00005
NM_001458.5(FLNC):c.1936G>A (p.Asp646Asn) rs372668691 0.00004
NM_001458.5(FLNC):c.6864C>T (p.Val2288=) rs761269440 0.00004
NM_001458.5(FLNC):c.5273G>A (p.Arg1758Gln) rs573984029 0.00003
NM_001458.5(FLNC):c.602-16T>A rs1236096502 0.00003
NM_001458.5(FLNC):c.3372G>A (p.Thr1124=) rs556913973 0.00002
NM_001458.5(FLNC):c.558G>A (p.Gln186=) rs532206394 0.00002
NM_001458.5(FLNC):c.2065G>A (p.Glu689Lys) rs1446694237 0.00001
NM_001458.5(FLNC):c.2627G>T (p.Gly876Val) rs534407127 0.00001
NM_001458.5(FLNC):c.2982C>T (p.Gly994=) rs947174901 0.00001
NM_001458.5(FLNC):c.4134G>A (p.Ala1378=) rs200942470 0.00001
NM_001458.5(FLNC):c.4728C>T (p.Val1576=) rs1222823077 0.00001
NM_001458.5(FLNC):c.5281G>A (p.Ala1761Thr) rs376023896 0.00001
NM_001458.5(FLNC):c.6877C>T (p.Arg2293Cys) rs571239463 0.00001
NM_001458.5(FLNC):c.7652A>G (p.Asp2551Gly) rs1040102987 0.00001
NM_001458.5(FLNC):c.-26_-9dup rs749265933
NM_001458.5(FLNC):c.248_265dup (p.Pro88_Arg89insHisArgLysPheHisPro) rs2128932214
NM_001458.5(FLNC):c.2838T>A (p.Tyr946Ter) rs769390195
NM_001458.5(FLNC):c.3180del (p.Asp1061fs) rs1064795229
NM_001458.5(FLNC):c.4737+9_4737+10del rs794727437
NM_001458.5(FLNC):c.4812G>A (p.Pro1604=) rs553400393
NM_001458.5(FLNC):c.4925C>G (p.Thr1642Arg) rs756074974
NM_001458.5(FLNC):c.5042C>G (p.Thr1681Arg) rs193159707
NM_001458.5(FLNC):c.5306_5314del (p.Glu1769_Pro1771del) rs2128938073
NM_001458.5(FLNC):c.5363T>G (p.Val1788Gly) rs573899913
NM_001458.5(FLNC):c.577G>A (p.Ala193Thr) rs387906587
NM_001458.5(FLNC):c.6205G>A (p.Ala2069Thr) rs368562957
NM_001458.5(FLNC):c.6864_6867dup (p.Val2290fs) rs2128939508
NM_001458.5(FLNC):c.6958G>A (p.Gly2320Arg) rs867808948
NM_001458.5(FLNC):c.7091G>C (p.Arg2364Pro) rs201672146
NM_001458.5(FLNC):c.7372G>A (p.Glu2458Lys) rs2128940160
NM_001458.5(FLNC):c.7609G>A (p.Ala2537Thr) rs201486752

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