ClinVar Miner

List of variants in gene FLNA reported as pathogenic by OMIM

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Total variants: 36
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HGVS dbSNP gnomAD frequency
NM_001110556.2(FLNA):c.3872C>T (p.Pro1291Leu) rs137853319 0.00023
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.116C>G (p.Ala39Gly) rs137853313
NM_001110556.2(FLNA):c.1829-1G>C rs1603362402
NM_001110556.2(FLNA):c.18_19del (p.Arg7fs) rs398122521
NM_001110556.2(FLNA):c.1910C>A (p.Pro637Gln) rs267606815
NM_001110556.2(FLNA):c.1923C>T (p.Gly641=) rs80338841
NM_001110556.2(FLNA):c.2132T>A (p.Val711Asp) rs267606817
NM_001110556.2(FLNA):c.2280+266_2827-25delinsTG
NM_001110556.2(FLNA):c.245A>T (p.Glu82Val) rs28935169
NM_001110556.2(FLNA):c.2762del (p.Arg921fs) rs1569551736
NM_001110556.2(FLNA):c.287_291del (p.Arg96fs) rs863223297
NM_001110556.2(FLNA):c.3476A>C (p.Asp1159Ala) rs28935471
NM_001110556.2(FLNA):c.3562G>A (p.Ala1188Thr) rs28935472
NM_001110556.2(FLNA):c.3596C>T (p.Ser1199Leu) rs28935473
NM_001110556.2(FLNA):c.373+1G>A rs863223296
NM_001110556.2(FLNA):c.383C>T (p.Ala128Val) rs137853315
NM_001110556.2(FLNA):c.4147del (p.Ala1383fs) rs863223299
NM_001110556.2(FLNA):c.4660G>A (p.Gly1554Arg) rs1603360542
NM_001110556.2(FLNA):c.4904_4912del (p.Arg1635_Val1637del) rs863223298
NM_001110556.2(FLNA):c.5182G>T (p.Gly1728Cys) rs137853316
NM_001110556.2(FLNA):c.5217G>A (p.Thr1739=) rs387907371
NM_001110556.2(FLNA):c.544C>T (p.Gln182Ter) rs137853310
NM_001110556.2(FLNA):c.586C>T (p.Arg196Trp) rs137853317
NM_001110556.2(FLNA):c.607G>T (p.Asp203Tyr) rs137853314
NM_001110556.2(FLNA):c.620C>T (p.Pro207Leu) rs28935469
NM_001110556.2(FLNA):c.622G>C (p.Gly208Arg) rs797045163
NM_001110556.2(FLNA):c.623-3C>G rs398123622
NM_001110556.2(FLNA):c.629G>T (p.Cys210Phe) rs137853318
NM_001110556.2(FLNA):c.67_68del (p.Thr23fs) rs80338840
NM_001110556.2(FLNA):c.6915C>G (p.Tyr2305Ter) rs781910090
NM_001110556.2(FLNA):c.720+2T>C rs863223295
NM_001110556.2(FLNA):c.7315C>A (p.Leu2439Met) rs2148101204
NM_001110556.2(FLNA):c.760G>A (p.Glu254Lys) rs28935470
NM_001110556.2(FLNA):c.862G>A (p.Gly288Arg) rs267606816

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