ClinVar Miner

List of variants in gene FLNA reported as likely pathogenic

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Gene type:
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Total variants: 109
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HGVS dbSNP gnomAD frequency
NM_001110556.2(FLNA):c.1451G>A (p.Arg484Gln) rs782371735 0.00004
NM_001110556.2(FLNA):c.4232C>T (p.Ser1411Leu) rs782426283 0.00004
NM_001110556.2(FLNA):c.1966C>T (p.Leu656Phe) rs137853311 0.00001
NM_001110556.2(FLNA):c.3557C>T (p.Ser1186Leu) rs137853312 0.00001
NM_001110556.2(FLNA):c.4726G>A (p.Gly1576Arg) rs797045044 0.00001
NM_001110556.2(FLNA):c.1027_1028del (p.Ser343fs) rs1557179349
NM_001110556.2(FLNA):c.1045G>T (p.Glu349Ter) rs370490152
NM_001110556.2(FLNA):c.1061_1065del (p.His354fs) rs786205180
NM_001110556.2(FLNA):c.1065+1G>T rs2067762985
NM_001110556.2(FLNA):c.1066-1G>A rs2148118126
NM_001110556.2(FLNA):c.1119C>G (p.Tyr373Ter) rs782121971
NM_001110556.2(FLNA):c.1130C>G (p.Ser377Ter)
NM_001110556.2(FLNA):c.1133_1134del (p.Gln378fs) rs1603362871
NM_001110556.2(FLNA):c.1209C>A (p.Tyr403Ter)
NM_001110556.2(FLNA):c.1213G>T (p.Glu405Ter)
NM_001110556.2(FLNA):c.122G>A (p.Trp41Ter)
NM_001110556.2(FLNA):c.124A>G (p.Lys42Glu)
NM_001110556.2(FLNA):c.125A>G (p.Lys42Arg) rs1569551930
NM_001110556.2(FLNA):c.134A>G (p.Gln45Arg) rs398123613
NM_001110556.2(FLNA):c.137del (p.Gln46fs) rs786205181
NM_001110556.2(FLNA):c.148dup (p.Thr50fs) rs1557180206
NM_001110556.2(FLNA):c.1722T>A (p.Cys574Ter) rs786205182
NM_001110556.2(FLNA):c.1734_1735delinsA (p.Val579fs) rs1064795854
NM_001110556.2(FLNA):c.1864G>A (p.Glu622Lys) rs1131691935
NM_001110556.2(FLNA):c.1924G>T (p.Glu642Ter) rs782178831
NM_001110556.2(FLNA):c.2023-6_2023-5insA rs1557178694
NM_001110556.2(FLNA):c.2026_2041del (p.Lys676fs)
NM_001110556.2(FLNA):c.2137-1G>A rs2148115834
NM_001110556.2(FLNA):c.2137-2A>G rs1064796297
NM_001110556.2(FLNA):c.2190_2193del (p.Tyr731fs) rs863223630
NM_001110556.2(FLNA):c.238C>G (p.Leu80Val) rs2148121932
NM_001110556.2(FLNA):c.2401_2402insCT (p.Gln801fs) rs2148114607
NM_001110556.2(FLNA):c.2405-1G>C
NM_001110556.2(FLNA):c.2514C>A (p.Tyr838Ter)
NM_001110556.2(FLNA):c.2596_2599del (p.Val866fs)
NM_001110556.2(FLNA):c.2761C>T (p.Arg921Ter) rs398123614
NM_001110556.2(FLNA):c.280A>G (p.Asn94Asp)
NM_001110556.2(FLNA):c.2827-2A>C rs2067713488
NM_001110556.2(FLNA):c.283C>T (p.Gln95Ter)
NM_001110556.2(FLNA):c.310C>G (p.Leu104Val)
NM_001110556.2(FLNA):c.319G>A (p.Val107Met) rs2148121877
NM_001110556.2(FLNA):c.3495del (p.Ser1166fs)
NM_001110556.2(FLNA):c.3523G>C (p.Ala1175Pro) rs370202395
NM_001110556.2(FLNA):c.3527G>A (p.Gly1176Glu)
NM_001110556.2(FLNA):c.3529del (p.Glu1177fs) rs786205188
NM_001110556.2(FLNA):c.3544C>T (p.Gln1182Ter)
NM_001110556.2(FLNA):c.3596C>T (p.Ser1199Leu) rs28935473
NM_001110556.2(FLNA):c.373G>A (p.Asp125Asn) rs2148121838
NM_001110556.2(FLNA):c.374-2A>G
NM_001110556.2(FLNA):c.3805+1G>A
NM_001110556.2(FLNA):c.3805+2T>C
NM_001110556.2(FLNA):c.382G>A (p.Ala128Thr)
NM_001110556.2(FLNA):c.3875_3888dup (p.Val1297fs) rs786205189
NM_001110556.2(FLNA):c.394G>A (p.Gly132Arg) rs1085307783
NM_001110556.2(FLNA):c.3980-5_3990dup rs786205190
NM_001110556.2(FLNA):c.4006del (p.Asp1336fs) rs786205191
NM_001110556.2(FLNA):c.4142+1G>A rs1603360906
NM_001110556.2(FLNA):c.4143-1G>T rs1557177485
NM_001110556.2(FLNA):c.415G>C (p.Gly139Arg) rs1557179684
NM_001110556.2(FLNA):c.418C>T (p.Leu140Phe) rs2148119483
NM_001110556.2(FLNA):c.4318del (p.Val1440fs)
NM_001110556.2(FLNA):c.4596_4598+5del rs1557177279
NM_001110556.2(FLNA):c.4598+1G>A
NM_001110556.2(FLNA):c.4599-1G>A rs1057518223
NM_001110556.2(FLNA):c.4617_4618del (p.Leu1540fs) rs786205194
NM_001110556.2(FLNA):c.4660G>A (p.Gly1554Arg) rs1603360542
NM_001110556.2(FLNA):c.4750_4755+18del rs2067676994
NM_001110556.2(FLNA):c.4785_4786del (p.Ile1596fs)
NM_001110556.2(FLNA):c.4935C>A (p.Cys1645Ter) rs786205197
NM_001110556.2(FLNA):c.4943del (p.Thr1648fs) rs786205198
NM_001110556.2(FLNA):c.4986_4989dup (p.Ile1664fs) rs2148107588
NM_001110556.2(FLNA):c.5021_5022del (p.Val1674fs) rs786205199
NM_001110556.2(FLNA):c.514C>T (p.Leu172Phe) rs2148119399
NM_001110556.2(FLNA):c.5183G>T (p.Gly1728Val) rs2148107380
NM_001110556.2(FLNA):c.5184C>T (p.Gly1728=) rs2148107375
NM_001110556.2(FLNA):c.537G>C (p.Lys179Asn) rs1557179655
NM_001110556.2(FLNA):c.5417-2A>G
NM_001110556.2(FLNA):c.5686+1G>C rs1557176315
NM_001110556.2(FLNA):c.586C>T (p.Arg196Trp) rs137853317
NM_001110556.2(FLNA):c.5989dup (p.Cys1997fs) rs2148105341
NM_001110556.2(FLNA):c.6001del (p.Arg2001fs) rs1603359417
NM_001110556.2(FLNA):c.620C>T (p.Pro207Leu) rs28935469
NM_001110556.2(FLNA):c.622+1G>A rs2148119316
NM_001110556.2(FLNA):c.622+5G>C rs2067774568
NM_001110556.2(FLNA):c.632C>G (p.Pro211Arg) rs1057518109
NM_001110556.2(FLNA):c.6425_6428del (p.Glu2142fs) rs2148104376
NM_001110556.2(FLNA):c.6479G>A (p.Cys2160Tyr) rs1603359205
NM_001110556.2(FLNA):c.6502+1G>T rs111306884
NM_001110556.2(FLNA):c.6502+3_6502+30del rs2148104272
NM_001110556.2(FLNA):c.6503-2A>C rs112363874
NM_001110556.2(FLNA):c.6580G>T (p.Glu2194Ter) rs786205202
NM_001110556.2(FLNA):c.6707G>T (p.Gly2236Val) rs1603359091
NM_001110556.2(FLNA):c.676C>T (p.Arg226Ter) rs1569551861
NM_001110556.2(FLNA):c.6772G>T (p.Glu2258Ter) rs1569551449
NM_001110556.2(FLNA):c.6839del (p.Lys2280fs)
NM_001110556.2(FLNA):c.6905_6907+4del
NM_001110556.2(FLNA):c.7023+1G>T rs2148102980
NM_001110556.2(FLNA):c.7023+4A>T rs1557175789
NM_001110556.2(FLNA):c.7059del (p.Phe2353fs) rs2148102202
NM_001110556.2(FLNA):c.7156+2T>C rs1057524378
NM_001110556.2(FLNA):c.732dup (p.Glu245fs) rs786205203
NM_001110556.2(FLNA):c.7333+1G>A rs1557175424
NM_001110556.2(FLNA):c.7333+1G>C rs1557175424
NM_001110556.2(FLNA):c.733G>A (p.Glu245Lys) rs797044753
NM_001110556.2(FLNA):c.760G>A (p.Glu254Lys) rs28935470
NM_001110556.2(FLNA):c.79G>T (p.Glu27Ter)
NM_001110556.2(FLNA):c.861C>G (p.Tyr287Ter) rs375503410
NM_001110556.2(FLNA):c.868+1G>A
NM_001110556.2(FLNA):c.987+1G>A rs786205204

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