ClinVar Miner

List of variants in gene FLNA reported as likely pathogenic for not provided

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Total variants: 28
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HGVS dbSNP gnomAD frequency
NM_001110556.2(FLNA):c.3557C>T (p.Ser1186Leu) rs137853312 0.00001
NM_001110556.2(FLNA):c.1027_1028del (p.Ser343fs) rs1557179349
NM_001110556.2(FLNA):c.1133_1134del (p.Gln378fs) rs1603362871
NM_001110556.2(FLNA):c.122G>A (p.Trp41Ter)
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.2023-6_2023-5insA rs1557178694
NM_001110556.2(FLNA):c.2137-2A>G rs1064796297
NM_001110556.2(FLNA):c.2190_2193del (p.Tyr731fs) rs863223630
NM_001110556.2(FLNA):c.2596_2599del (p.Val866fs)
NM_001110556.2(FLNA):c.319G>A (p.Val107Met) rs2148121877
NM_001110556.2(FLNA):c.3523G>C (p.Ala1175Pro) rs370202395
NM_001110556.2(FLNA):c.3527G>A (p.Gly1176Glu)
NM_001110556.2(FLNA):c.394G>A (p.Gly132Arg) rs1085307783
NM_001110556.2(FLNA):c.4318del (p.Val1440fs)
NM_001110556.2(FLNA):c.4599-1G>A rs1057518223
NM_001110556.2(FLNA):c.4660G>A (p.Gly1554Arg) rs1603360542
NM_001110556.2(FLNA):c.4986_4989dup (p.Ile1664fs) rs2148107588
NM_001110556.2(FLNA):c.5184C>T (p.Gly1728=) rs2148107375
NM_001110556.2(FLNA):c.586C>T (p.Arg196Trp) rs137853317
NM_001110556.2(FLNA):c.6001del (p.Arg2001fs) rs1603359417
NM_001110556.2(FLNA):c.632C>G (p.Pro211Arg) rs1057518109
NM_001110556.2(FLNA):c.676C>T (p.Arg226Ter) rs1569551861
NM_001110556.2(FLNA):c.7156+2T>C rs1057524378
NM_001110556.2(FLNA):c.760G>A (p.Glu254Lys) rs28935470
NM_001110556.2(FLNA):c.868+1G>A

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