ClinVar Miner

List of variants in gene FLG reported as pathogenic for not provided

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Gene type:
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Total variants: 111
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HGVS dbSNP gnomAD frequency
NM_002016.2(FLG):c.9947C>G (p.Ser3316Ter) rs149484917 0.00246
NM_002016.2(FLG):c.9740C>A (p.Ser3247Ter) rs150597413 0.00144
NM_002016.2(FLG):c.5840G>A (p.Trp1947Ter) rs560912365 0.00048
NM_002016.2(FLG):c.3321del (p.Gly1109fs) rs200519781 0.00029
NM_002016.2(FLG):c.6239C>A (p.Ser2080Ter) rs147145234 0.00014
NM_002016.2(FLG):c.11851dup (p.His3951fs) rs781161516 0.00013
NM_002016.2(FLG):c.8911A>T (p.Arg2971Ter) rs757726987 0.00008
NM_002016.2(FLG):c.2540del (p.Gly846_Ser847insTer) rs760643994 0.00007
NM_002016.2(FLG):c.9025C>T (p.Arg3009Ter) rs751209525 0.00007
NM_002016.2(FLG):c.11575C>T (p.Gln3859Ter) rs573388805 0.00006
NM_002016.2(FLG):c.3418C>T (p.Arg1140Ter) rs141375260 0.00006
NM_002016.2(FLG):c.3905C>A (p.Ser1302Ter) rs754812742 0.00006
NM_002016.2(FLG):c.4544C>A (p.Ser1515Ter) rs180768115 0.00006
NM_002016.2(FLG):c.7264G>T (p.Glu2422Ter) rs374588791 0.00006
NM_002016.2(FLG):c.745dup (p.Ser249fs) rs781280495 0.00006
NM_002016.2(FLG):c.10969C>T (p.Arg3657Ter) rs749083759 0.00004
NM_002016.2(FLG):c.11246C>G (p.Ser3749Ter) rs774129089 0.00004
NM_002016.2(FLG):c.2218C>T (p.Arg740Ter) rs777181377 0.00004
NM_002016.2(FLG):c.6682G>T (p.Gly2228Ter) rs778545248 0.00004
NM_002016.2(FLG):c.7031C>G (p.Ser2344Ter) rs372754256 0.00004
NM_002016.2(FLG):c.8053C>T (p.Arg2685Ter) rs754727774 0.00004
NM_002016.2(FLG):c.10225C>T (p.Arg3409Ter) rs201356558 0.00003
NM_002016.2(FLG):c.1063C>T (p.Gln355Ter) rs142991475 0.00003
NM_002016.2(FLG):c.11635C>T (p.Arg3879Ter) rs546871592 0.00003
NM_002016.2(FLG):c.3757G>T (p.Gly1253Ter) rs199895224 0.00003
NM_002016.2(FLG):c.7249C>T (p.Gln2417Ter) rs528722713 0.00003
NM_002016.2(FLG):c.779C>A (p.Ser260Ter) rs199885226 0.00003
NM_002016.2(FLG):c.8117C>G (p.Ser2706Ter) rs542799026 0.00003
NM_002016.2(FLG):c.9887C>A (p.Ser3296Ter) rs761212672 0.00003
NM_002016.2(FLG):c.10558C>T (p.Gln3520Ter) rs754328064 0.00002
NM_002016.2(FLG):c.6208C>T (p.Gln2070Ter) rs1423603720 0.00002
NM_002016.2(FLG):c.7358C>G (p.Ser2453Ter) rs1388479165 0.00002
NM_002016.2(FLG):c.10324A>T (p.Arg3442Ter) rs764094665 0.00001
NM_002016.2(FLG):c.3427G>T (p.Gly1143Ter) rs1258394093 0.00001
NM_002016.2(FLG):c.5186C>G (p.Ser1729Ter) rs1203718709 0.00001
NM_002016.2(FLG):c.5230C>T (p.Gln1744Ter) rs972579811 0.00001
NM_002016.2(FLG):c.5690del (p.His1897fs) rs1246063885 0.00001
NM_002016.2(FLG):c.6276C>A (p.Tyr2092Ter) rs1425411066 0.00001
NM_002016.2(FLG):c.660del (p.Gly221fs) rs756626190 0.00001
NM_002016.2(FLG):c.9595C>T (p.Gln3199Ter) rs1553211362 0.00001
NM_002016.2(FLG):c.977G>A (p.Trp326Ter) rs201728138 0.00001
NM_002016.2(FLG):c.10191del (p.Glu3397fs) rs1064795983
NM_002016.2(FLG):c.10919_10926del (p.Ser3640fs)
NM_002016.2(FLG):c.11035del (p.Val3679fs) rs1570893617
NM_002016.2(FLG):c.11227C>T (p.Arg3743Ter) rs142421644
NM_002016.2(FLG):c.11452C>T (p.Gln3818Ter) rs148606936
NM_002016.2(FLG):c.11528C>G (p.Ser3843Ter) rs1057518212
NM_002016.2(FLG):c.11952T>A (p.Tyr3984Ter)
NM_002016.2(FLG):c.1248dup (p.Ser417fs) rs763225328
NM_002016.2(FLG):c.1378G>T (p.Glu460Ter) rs199756380
NM_002016.2(FLG):c.1685C>A (p.Ser562Ter) rs754567575
NM_002016.2(FLG):c.1714C>T (p.Arg572Ter) rs200601767
NM_002016.2(FLG):c.1823C>A (p.Ser608Ter)
NM_002016.2(FLG):c.1826C>A (p.Ser609Ter) rs145119819
NM_002016.2(FLG):c.1830del (p.Arg612fs) rs1570913142
NM_002016.2(FLG):c.2906del (p.Asn969fs) rs1064796274
NM_002016.2(FLG):c.3010C>T (p.Gln1004Ter) rs1486805206
NM_002016.2(FLG):c.3222_3225del (p.Ser1074fs) rs745915174
NM_002016.2(FLG):c.3254_3257del (p.Ser1085fs) rs41370446
NM_002016.2(FLG):c.3317G>A (p.Trp1106Ter) rs150137199
NM_002016.2(FLG):c.3448C>T (p.Arg1150Ter)
NM_002016.2(FLG):c.3510del (p.Ser1171fs) rs1370544496
NM_002016.2(FLG):c.3551C>A (p.Ser1184Ter) rs3120649
NM_002016.2(FLG):c.3702del (p.Ser1235fs) rs397507563
NM_002016.2(FLG):c.3837del (p.Ser1280fs) rs1064793675
NM_002016.2(FLG):c.388_391del (p.Arg130fs) rs769677999
NM_002016.2(FLG):c.3892del (p.Ser1298fs) rs1553213136
NM_002016.2(FLG):c.4004_4005del (p.Glu1335fs) rs1057517973
NM_002016.2(FLG):c.441_442del (p.Gly149fs)
NM_002016.2(FLG):c.477dup (p.Glu160fs) rs746683647
NM_002016.2(FLG):c.4785_4788del (p.Ser1595fs) rs761519693
NM_002016.2(FLG):c.4786C>T (p.Gln1596Ter) rs756998312
NM_002016.2(FLG):c.482_485del (p.Arg161fs) rs1168180592
NM_002016.2(FLG):c.487G>T (p.Gly163Ter) rs1214424848
NM_002016.2(FLG):c.5101C>T (p.Gln1701Ter)
NM_002016.2(FLG):c.5134C>T (p.Arg1712Ter) rs188394023
NM_002016.2(FLG):c.527dup (p.Asn176fs)
NM_002016.2(FLG):c.5360del (p.Gly1787fs)
NM_002016.2(FLG):c.5383G>T (p.Glu1795Ter) rs140424742
NM_002016.2(FLG):c.5387_5967del (p.Gln1796fs)
NM_002016.2(FLG):c.5392C>T (p.Arg1798Ter) rs149105551
NM_002016.2(FLG):c.557dup (p.Asn186fs) rs771721862
NM_002016.2(FLG):c.5799del (p.Arg1933fs)
NM_002016.2(FLG):c.5841G>A (p.Trp1947Ter) rs748135905
NM_002016.2(FLG):c.5930C>G (p.Ser1977Ter) rs140980397
NM_002016.2(FLG):c.5945_5946del (p.Thr1982fs) rs771027814
NM_002016.2(FLG):c.5996C>G (p.Ser1999Ter)
NM_002016.2(FLG):c.6034C>T (p.Gln2012Ter)
NM_002016.2(FLG):c.6321dup (p.Ala2108fs) rs1652150709
NM_002016.2(FLG):c.63del (p.Asp22fs) rs756605558
NM_002016.2(FLG):c.6834_6838del (p.Ser2279fs)
NM_002016.2(FLG):c.6950_6957del (p.Ala2316_Ser2317insTer) rs578184315
NM_002016.2(FLG):c.7081C>T (p.Arg2361Ter) rs528961889
NM_002016.2(FLG):c.7098_7101del (p.Ser2366fs) rs755823797
NM_002016.2(FLG):c.7267_7268del (p.Gln2423fs) rs760831749
NM_002016.2(FLG):c.7358C>A (p.Ser2453Ter) rs1388479165
NM_002016.2(FLG):c.7467del (p.Ser2490fs)
NM_002016.2(FLG):c.7564C>T (p.Gln2522Ter)
NM_002016.2(FLG):c.7945del (p.Ser2649fs) rs538406713
NM_002016.2(FLG):c.8117_8120del (p.Ser2706fs)
NM_002016.2(FLG):c.8721G>A (p.Trp2907Ter) rs775033195
NM_002016.2(FLG):c.8894C>G (p.Ser2965Ter)
NM_002016.2(FLG):c.9042_9060dup (p.Gly3021delinsSerGlyGlnTer)
NM_002016.2(FLG):c.9061G>T (p.Gly3021Ter) rs1651921400
NM_002016.2(FLG):c.9253G>T (p.Gly3085Ter)
NM_002016.2(FLG):c.9280del (p.Ala3094fs) rs777848510
NM_002016.2(FLG):c.9539C>A (p.Ser3180Ter) rs747040656
NM_002016.2(FLG):c.9683_9684del (p.Asp3227_Ser3228insTer) rs2101637757
NM_002016.2(FLG):c.9721G>T (p.Gly3241Ter)
NM_002016.2(FLG):c.9722del (p.Gly3241fs) rs1064796105
NM_002016.2(FLG):c.9815_9818del (p.Arg3272fs) rs769826402

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