ClinVar Miner

List of variants reported as likely pathogenic for Myofibrillar myopathy 5; Distal myopathy with posterior leg and anterior hand involvement; Hypertrophic cardiomyopathy 26; Dilated Cardiomyopathy, Dominant

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Total variants: 75
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HGVS dbSNP gnomAD frequency
NM_001458.5(FLNC):c.4069G>A (p.Gly1357Arg) rs1218299104 0.00001
NM_001458.5(FLNC):c.4738-1G>A rs1808678197 0.00001
NM_001458.5(FLNC):c.5199+1G>T rs1465588989 0.00001
NC_000007.13:g.(?_128475370)_(128478867_?)del
NC_000007.13:g.(?_128480199)_(128481774_?)del
NM_001458.5(FLNC):c.1047+1G>A rs762493013
NM_001458.5(FLNC):c.1047+1G>T rs762493013
NM_001458.5(FLNC):c.1210+1G>A
NM_001458.5(FLNC):c.1411+1G>T rs2128934545
NM_001458.5(FLNC):c.1548_1549+2del rs763330423
NM_001458.5(FLNC):c.1549+1G>A
NM_001458.5(FLNC):c.1549+2T>G rs111806457
NM_001458.5(FLNC):c.1676+1G>A rs111452612
NM_001458.5(FLNC):c.1813+2T>C rs113483303
NM_001458.5(FLNC):c.1814-1G>A
NM_001458.5(FLNC):c.2007+1G>A
NM_001458.5(FLNC):c.2265+1G>A rs1585157354
NM_001458.5(FLNC):c.2265+2T>C
NM_001458.5(FLNC):c.2550+1G>C
NM_001458.5(FLNC):c.2550+2T>C rs113972676
NM_001458.5(FLNC):c.2641+1G>T
NM_001458.5(FLNC):c.2641+2T>G
NM_001458.5(FLNC):c.2811+1G>T rs2128936028
NM_001458.5(FLNC):c.2929+2_2929+7del rs2128936119
NM_001458.5(FLNC):c.3193-2A>G rs749889670
NM_001458.5(FLNC):c.352+1G>A
NM_001458.5(FLNC):c.352+1G>T
NM_001458.5(FLNC):c.3581C>T (p.Ser1194Leu) rs773481064
NM_001458.5(FLNC):c.3964+1G>A rs1808557594
NM_001458.5(FLNC):c.3964+1G>T rs1808557594
NM_001458.5(FLNC):c.4127+1G>A
NM_001458.5(FLNC):c.4128-1G>C
NM_001458.5(FLNC):c.4128-2_4128-1del rs1808585056
NM_001458.5(FLNC):c.4288+1G>A rs2128937065
NM_001458.5(FLNC):c.4288+2T>G
NM_001458.5(FLNC):c.4457-1G>A rs1404524040
NM_001458.5(FLNC):c.4580+1G>A
NM_001458.5(FLNC):c.4637G>A (p.Gly1546Asp) rs1427917546
NM_001458.5(FLNC):c.4737+1G>T
NM_001458.5(FLNC):c.4920_4927+6del
NM_001458.5(FLNC):c.4927+2T>C
NM_001458.5(FLNC):c.4927+2T>G rs2128937680
NM_001458.5(FLNC):c.4928-1G>C
NM_001458.5(FLNC):c.4951+2T>C rs1585164316
NM_001458.5(FLNC):c.4952-2A>T rs774945928
NM_001458.5(FLNC):c.5199+1G>C rs1465588989
NM_001458.5(FLNC):c.5398+1G>C rs1808761665
NM_001458.5(FLNC):c.5399-1G>A
NM_001458.5(FLNC):c.5399-2A>C rs2128938204
NM_001458.5(FLNC):c.5540-2A>G rs111477195
NM_001458.5(FLNC):c.5683G>C (p.Ala1895Pro) rs2128938435
NM_001458.5(FLNC):c.5842+1G>A rs2128938502
NM_001458.5(FLNC):c.5842+2T>G rs2128938503
NM_001458.5(FLNC):c.5843-2A>G rs1808866340
NM_001458.5(FLNC):c.602-2A>C
NM_001458.5(FLNC):c.6202_6208+11del
NM_001458.5(FLNC):c.6209-1G>C
NM_001458.5(FLNC):c.6362-1G>T rs1808924231
NM_001458.5(FLNC):c.6569G>C (p.Arg2190Pro) rs762680314
NM_001458.5(FLNC):c.6958G>A (p.Gly2320Arg) rs867808948
NM_001458.5(FLNC):c.699+1G>A rs1562991776
NM_001458.5(FLNC):c.699+2T>C
NM_001458.5(FLNC):c.6997+1G>A
NM_001458.5(FLNC):c.6997+1G>T rs1585169973
NM_001458.5(FLNC):c.7384+2T>C rs112941619
NM_001458.5(FLNC):c.7559C>A (p.Thr2520Asn) rs1809086992
NM_001458.5(FLNC):c.7562-1G>A rs2128940335
NM_001458.5(FLNC):c.7718T>G (p.Ile2573Ser)
NM_001458.5(FLNC):c.7780+1G>A rs1563005607
NM_001458.5(FLNC):c.7780+1G>C rs1563005607
NM_001458.5(FLNC):c.7780+1G>T
NM_001458.5(FLNC):c.7780+2T>A
NM_001458.5(FLNC):c.7780+2T>C rs1809110247
NM_001458.5(FLNC):c.850+1G>A rs1808146842
NM_001458.5(FLNC):c.850+1G>T rs1808146842

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