ClinVar Miner

List of variants in gene FBN1 studied for Ectopia lentis

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Gene type:
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Total variants: 160
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HGVS dbSNP
NM_000138.4(FBN1):c.*1007G>T rs886051236
NM_000138.4(FBN1):c.*1084T>C rs3803350
NM_000138.4(FBN1):c.*1228T>C rs372333234
NM_000138.4(FBN1):c.*1245C>T rs181099623
NM_000138.4(FBN1):c.*1252A>G rs566419089
NM_000138.4(FBN1):c.*1298C>G rs143446014
NM_000138.4(FBN1):c.*1325T>C rs569152308
NM_000138.4(FBN1):c.*1368A>G rs77212138
NM_000138.4(FBN1):c.*1396C>T rs886051235
NM_000138.4(FBN1):c.*1398G>C rs886051234
NM_000138.4(FBN1):c.*1437G>A rs549498511
NM_000138.4(FBN1):c.*1477C>A rs886051233
NM_000138.4(FBN1):c.*1484C>T rs533502309
NM_000138.4(FBN1):c.*1562G>T rs78442438
NM_000138.4(FBN1):c.*1575T>G rs4775760
NM_000138.4(FBN1):c.*1580G>A rs17352989
NM_000138.4(FBN1):c.*1619T>A rs374297351
NM_000138.4(FBN1):c.*1635C>A rs886051232
NM_000138.4(FBN1):c.*1672G>A rs886051231
NM_000138.4(FBN1):c.*1706C>A rs770825180
NM_000138.4(FBN1):c.*1720C>T rs557301792
NM_000138.4(FBN1):c.*1733A>G rs886051230
NM_000138.4(FBN1):c.*1943G>T rs886051229
NM_000138.4(FBN1):c.*1949T>C rs534577080
NM_000138.4(FBN1):c.*1950dup rs535798341
NM_000138.4(FBN1):c.*1959G>A rs12050562
NM_000138.4(FBN1):c.*1989C>T rs56194244
NM_000138.4(FBN1):c.*2024A>G rs558488257
NM_000138.4(FBN1):c.*202_*203del rs766125141
NM_000138.4(FBN1):c.*2040T>C rs73390272
NM_000138.4(FBN1):c.*2078G>T rs886051228
NM_000138.4(FBN1):c.*2091G>A rs575922741
NM_000138.4(FBN1):c.*2114T>A rs886051227
NM_000138.4(FBN1):c.*2153A>G rs116443051
NM_000138.4(FBN1):c.*2158G>A rs11070641
NM_000138.4(FBN1):c.*2221A>G rs886051226
NM_000138.4(FBN1):c.*2260C>A rs886051225
NM_000138.4(FBN1):c.*2360C>G rs144404153
NM_000138.4(FBN1):c.*2395G>A rs184719603
NM_000138.4(FBN1):c.*2398G>T rs377530465
NM_000138.4(FBN1):c.*2421C>A rs886051224
NM_000138.4(FBN1):c.*2443G>T rs886051223
NM_000138.4(FBN1):c.*2524A>G rs75372203
NM_000138.4(FBN1):c.*2533C>A rs886051222
NM_000138.4(FBN1):c.*254C>T rs886051243
NM_000138.4(FBN1):c.*2556G>A rs886051221
NM_000138.4(FBN1):c.*2578C>T rs761025257
NM_000138.4(FBN1):c.*2594G>T rs886051220
NM_000138.4(FBN1):c.*2638T>C rs886051219
NM_000138.4(FBN1):c.*2674T>A rs142196699
NM_000138.4(FBN1):c.*268G>C rs886051242
NM_000138.4(FBN1):c.*286C>T rs886051241
NM_000138.4(FBN1):c.*314C>T rs1042078
NM_000138.4(FBN1):c.*406G>T rs886051240
NM_000138.4(FBN1):c.*57A>G rs363849
NM_000138.4(FBN1):c.*724A>C rs886051239
NM_000138.4(FBN1):c.*730G>T rs13598
NM_000138.4(FBN1):c.*764G>A rs55717426
NM_000138.4(FBN1):c.*867G>T rs189749406
NM_000138.4(FBN1):c.*938G>T rs886051238
NM_000138.4(FBN1):c.*948G>T rs749224599
NM_000138.4(FBN1):c.*960del rs527621676
NM_000138.4(FBN1):c.*967C>T rs56024388
NM_000138.4(FBN1):c.*987C>T rs886051237
NM_000138.4(FBN1):c.-132A>C rs886051255
NM_000138.4(FBN1):c.-136G>C rs879283668
NM_000138.4(FBN1):c.-176A>T rs560004254
NM_000138.4(FBN1):c.-319G>T rs886051256
NM_000138.4(FBN1):c.-35C>T rs199781948
NM_000138.4(FBN1):c.-371T>C rs886051257
NM_000138.4(FBN1):c.-387_-384delTCTC rs886051258
NM_000138.4(FBN1):c.-388C>T rs3825792
NM_000138.4(FBN1):c.-70C>A rs886051253
NM_000138.4(FBN1):c.-98G>T rs886051254
NM_000138.4(FBN1):c.1193G>A (p.Arg398Lys) rs886051250
NM_000138.4(FBN1):c.1371C>G (p.Arg457=) rs25436
NM_000138.4(FBN1):c.1468+4C>A rs765579667
NM_000138.4(FBN1):c.156G>T (p.Ala52=) rs25398
NM_000138.4(FBN1):c.1602T>C (p.Cys534=) rs377386372
NM_000138.4(FBN1):c.1746C>T (p.Cys582=) rs112366266
NM_000138.4(FBN1):c.1837+9T>C rs56102085
NM_000138.4(FBN1):c.1875T>C (p.Asn625=) rs25458
NM_000138.4(FBN1):c.2175T>C (p.Asn725=) rs140606
NM_000138.4(FBN1):c.223C>T (p.Pro75Ser) rs886051252
NM_000138.4(FBN1):c.2420-8T>C rs140582
NM_000138.4(FBN1):c.2855-9C>T rs140590
NM_000138.4(FBN1):c.2895G>A (p.Glu965=) rs140591
NM_000138.4(FBN1):c.2903C>T (p.Thr968Ile) rs781698952
NM_000138.4(FBN1):c.2956G>A (p.Ala986Thr) rs112287730
NM_000138.4(FBN1):c.2979C>T (p.Cys993=) rs150126098
NM_000138.4(FBN1):c.3069G>A (p.Lys1023=) rs199789628
NM_000138.4(FBN1):c.306C>T (p.Cys102=) rs25388
NM_000138.4(FBN1):c.3082+6A>G rs79321504
NM_000138.4(FBN1):c.3089A>G (p.Asn1030Ser) rs375996640
NM_000138.4(FBN1):c.3171C>T (p.Ser1057=) rs144400069
NM_000138.4(FBN1):c.3337+11G>A rs368726848
NM_000138.4(FBN1):c.3422C>T (p.Pro1141Leu) rs2228241
NM_000138.4(FBN1):c.3423G>A (p.Pro1141=) rs140396599
NM_000138.4(FBN1):c.3463+3A>G rs80344206
NM_000138.4(FBN1):c.3464-5G>A rs11853943
NM_000138.4(FBN1):c.3509G>A (p.Arg1170His) rs137854475
NM_000138.4(FBN1):c.3570C>T (p.Pro1190=) rs188317014
NM_000138.4(FBN1):c.3675G>A (p.Pro1225=) rs148147223
NM_000138.4(FBN1):c.3740A>T (p.Asn1247Ile) rs568625812
NM_000138.4(FBN1):c.3890A>G (p.Glu1297Gly) rs200342067
NM_000138.4(FBN1):c.3896C>T (p.Thr1299Met) rs774851476
NM_000138.4(FBN1):c.3936C>T (p.Ser1312=) rs779913610
NM_000138.4(FBN1):c.3965-8T>C rs140637
NM_000138.4(FBN1):c.396T>C (p.Asp132=) rs147481356
NM_000138.4(FBN1):c.4313G>A (p.Ser1438Asn) rs587782945
NM_000138.4(FBN1):c.4336+11G>A rs886051249
NM_000138.4(FBN1):c.4640C>T (p.Thr1547Ile) rs183306990
NM_000138.4(FBN1):c.4905C>G (p.Thr1635=) rs113115949
NM_000138.4(FBN1):c.5066-21dup rs3833018
NM_000138.4(FBN1):c.510C>T (p.Tyr170=) rs111671429
NM_000138.4(FBN1):c.5296+14G>A rs140650
NM_000138.4(FBN1):c.538+4A>G rs375721252
NM_000138.4(FBN1):c.5405A>G (p.Lys1802Arg) rs886051248
NM_000138.4(FBN1):c.5442C>T (p.Asn1814=) rs397515822
NM_000138.4(FBN1):c.5672-15C>G rs776163620
NM_000138.4(FBN1):c.5724A>G (p.Thr1908=) rs141219664
NM_000138.4(FBN1):c.5788+10C>A rs371560107
NM_000138.4(FBN1):c.5788+4C>A rs577301285
NM_000138.4(FBN1):c.589G>C (p.Gly197Arg) rs886051251
NM_000138.4(FBN1):c.5917+3A>G rs202158568
NM_000138.4(FBN1):c.6095C>G (p.Thr2032Ser) rs756506237
NM_000138.4(FBN1):c.6264G>C (p.Lys2088Asn) rs886051247
NM_000138.4(FBN1):c.6314-15G>A rs200841830
NM_000138.4(FBN1):c.6357G>C (p.Val2119=) rs886051246
NM_000138.4(FBN1):c.6393C>T (p.Cys2131=) rs61730051
NM_000138.4(FBN1):c.6594C>T (p.Pro2198=) rs111844882
NM_000138.4(FBN1):c.6681A>C (p.Ser2227=) rs363824
NM_000138.4(FBN1):c.6700G>A (p.Val2234Met) rs112084407
NM_000138.4(FBN1):c.6801C>T (p.Asn2267=) rs886051245
NM_000138.4(FBN1):c.6832C>T (p.Pro2278Ser) rs363835
NM_000138.4(FBN1):c.6855T>C (p.Asp2285=) rs363836
NM_000138.4(FBN1):c.6888G>A (p.Gln2296=) rs363830
NM_000138.4(FBN1):c.6987C>G (p.Asp2329Glu) rs363831
NM_000138.4(FBN1):c.7056C>T (p.Ser2352=) rs149697299
NM_000138.4(FBN1):c.7098C>T (p.Asp2366=) rs1005074
NM_000138.4(FBN1):c.723G>A (p.Thr241=) rs757264206
NM_000138.4(FBN1):c.7497A>G (p.Leu2499=) rs148516442
NM_000138.4(FBN1):c.7661G>A (p.Arg2554Gln) rs199522781
NM_000138.4(FBN1):c.7819+8A>C rs363838
NM_000138.4(FBN1):c.783T>C (p.Asn261=) rs113721547
NM_000138.4(FBN1):c.79G>A (p.Ala27Thr) rs25397
NM_000138.4(FBN1):c.8011C>T (p.Leu2671=) rs886051244
NM_000138.4(FBN1):c.8071G>A (p.Gly2691Ser) rs145105768
NM_000138.4(FBN1):c.8149G>A (p.Glu2717Lys) rs187553035
NM_000138.4(FBN1):c.8176C>T (p.Arg2726Trp) rs61746008
NM_000138.4(FBN1):c.8185A>C (p.Lys2729Gln) rs370096856
NM_000138.4(FBN1):c.8202C>T (p.Asn2734=) rs113904256
NM_000138.4(FBN1):c.8227-3C>T rs200822151
NM_000138.4(FBN1):c.8283A>T (p.Thr2761=) rs146120912
NM_000138.4(FBN1):c.8310C>T (p.His2770=) rs112189340
NM_000138.4(FBN1):c.8363C>T (p.Thr2788Met) rs143007898
NM_000138.4(FBN1):c.8502T>C (p.Thr2834=) rs363847
NM_000138.4(FBN1):c.885T>G (p.Ile295Met) rs151056963
NM_000138.4(FBN1):c.902G>T (p.Gly301Val) rs142888621
NM_000138.4(FBN1):c.986T>C (p.Ile329Thr) rs12324002

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