ClinVar Miner

List of variants in gene NF1 reported as likely pathogenic for not provided

Minimum submission review status: Collection method:
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Gene type:
ClinVar version:
Total variants: 337
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HGVS dbSNP gnomAD frequency
NM_001042492.3(NF1):c.204+1G>T rs886039548 0.00001
NM_001042492.3(NF1):c.2350T>C (p.Trp784Arg) rs199474730 0.00001
NM_001042492.3(NF1):c.278G>A (p.Cys93Tyr) rs199474728 0.00001
NM_001042492.3(NF1):c.288G>T (p.Gly96=) rs1430988476 0.00001
NM_001042492.3(NF1):c.3586C>T (p.Leu1196Phe) rs1555615039 0.00001
NM_001042492.3(NF1):c.3827G>A (p.Arg1276Gln) rs137854556 0.00001
NM_001042492.3(NF1):c.4382T>C (p.Met1461Thr) rs754639587 0.00001
NM_001042492.3(NF1):c.6006G>A (p.Gln2002=) rs1555534432 0.00001
GRCh37/hg19 17q11.2(chr17:29576002-29576137)x3
NM_001042492.3(NF1):c.1013A>G (p.Asp338Gly) rs199474773
NM_001042492.3(NF1):c.1019_1020del (p.Ser340fs) rs1555610903
NM_001042492.3(NF1):c.1061A>G (p.Lys354Arg) rs1135402801
NM_001042492.3(NF1):c.1062+1G>A rs1597681200
NM_001042492.3(NF1):c.1062+2T>C rs2066510391
NM_001042492.3(NF1):c.1062+3A>G rs1057521098
NM_001042492.3(NF1):c.1062G>A (p.Lys354=) rs1131691118
NM_001042492.3(NF1):c.1062G>C (p.Lys354Asn) rs1131691118
NM_001042492.3(NF1):c.1063-2A>G rs1060500358
NM_001042492.3(NF1):c.1070T>C (p.Leu357Pro) rs137854563
NM_001042492.3(NF1):c.1070T>G (p.Leu357Arg) rs137854563
NM_001042492.3(NF1):c.1095_1096del (p.Gly367fs) rs1597681960
NM_001042492.3(NF1):c.1135T>C (p.Cys379Arg) rs1060500281
NM_001042492.3(NF1):c.1139T>C (p.Leu380Pro) rs1555611004
NM_001042492.3(NF1):c.1186-1G>C rs876660782
NM_001042492.3(NF1):c.1186-3T>G rs2066527385
NM_001042492.3(NF1):c.1229T>C (p.Leu410Pro) rs1376759287
NM_001042492.3(NF1):c.1229T>G (p.Leu410Arg) rs1376759287
NM_001042492.3(NF1):c.1235A>G (p.Asn412Ser) rs1567836090
NM_001042492.3(NF1):c.1260+5G>A rs1060500253
NM_001042492.3(NF1):c.128T>C (p.Leu43Pro) rs1555604899
NM_001042492.3(NF1):c.1328T>C (p.Phe443Ser) rs1555611581
NM_001042492.3(NF1):c.1374del (p.Ala459fs)
NM_001042492.3(NF1):c.1392+2T>A
NM_001042492.3(NF1):c.1392+2T>C rs1555611610
NM_001042492.3(NF1):c.1393-592A>G rs2066773116
NM_001042492.3(NF1):c.1415dup (p.Thr473fs) rs2544829159
NM_001042492.3(NF1):c.1442del (p.Pro481fs) rs2544829350
NM_001042492.3(NF1):c.1505_1527+1del rs2544829809
NM_001042492.3(NF1):c.1506dup (p.Asp503fs) rs2544829834
NM_001042492.3(NF1):c.1522del (p.Leu508fs) rs1952238027
NM_001042492.3(NF1):c.1527+1159C>T rs878853868
NM_001042492.3(NF1):c.1527+2dup rs1597698533
NM_001042492.3(NF1):c.1527+4_1527+7del rs1555612294
NM_001042492.3(NF1):c.1527+5G>A rs1060500352
NM_001042492.3(NF1):c.1570_1571del (p.Glu524fs)
NM_001042492.3(NF1):c.1586T>C (p.Leu529Pro) rs2143986529
NM_001042492.3(NF1):c.1641+1G>A rs1555612866
NM_001042492.3(NF1):c.1642-449A>G rs863224655
NM_001042492.3(NF1):c.1642G>T (p.Ala548Ser) rs2066927450
NM_001042492.3(NF1):c.1646T>C (p.Leu549Pro) rs199474758
NM_001042492.3(NF1):c.1649T>C (p.Leu550Pro) rs886052798
NM_001042492.3(NF1):c.1657C>G (p.His553Asp) rs2144003901
NM_001042492.3(NF1):c.1658A>G (p.His553Arg) rs1064794274
NM_001042492.3(NF1):c.1721+542A>G rs2066942173
NM_001042492.3(NF1):c.1721G>T (p.Ser574Ile) rs1555613206
NM_001042492.3(NF1):c.1733T>C (p.Leu578Pro) rs199474774
NM_001042492.3(NF1):c.1748A>G (p.Lys583Arg) rs199474760
NM_001042492.3(NF1):c.1754del (p.Lys584_Leu585insTer) rs2508125114
NM_001042492.3(NF1):c.1786del (p.Ile596fs)
NM_001042492.3(NF1):c.1801_1803del (p.Arg601del) rs1555613421
NM_001042492.3(NF1):c.1805_1807del (p.Glu602_Ile603delinsVal) rs2508126300
NM_001042492.3(NF1):c.1845G>C (p.Lys615Asn)
NM_001042492.3(NF1):c.1845G>T (p.Lys615Asn) rs1131691080
NM_001042492.3(NF1):c.185T>A (p.Leu62Ter) rs2544681730
NM_001042492.3(NF1):c.204+1G>A rs886039548
NM_001042492.3(NF1):c.2072T>C (p.Leu691Pro) rs1131691132
NM_001042492.3(NF1):c.2072T>G (p.Leu691Arg) rs1131691132
NM_001042492.3(NF1):c.2084T>C (p.Leu695Pro) rs199474761
NM_001042492.3(NF1):c.2084T>G (p.Leu695Arg) rs199474761
NM_001042492.3(NF1):c.2125T>C (p.Cys709Arg) rs1131691095
NM_001042492.3(NF1):c.2158del (p.Arg720fs) rs1597712619
NM_001042492.3(NF1):c.2268del (p.Arg758fs) rs2151426865
NM_001042492.3(NF1):c.2288T>C (p.Leu763Pro) rs199474762
NM_001042492.3(NF1):c.2325+3A>G rs1057517848
NM_001042492.3(NF1):c.2325G>C (p.Glu775Asp) rs1555613932
NM_001042492.3(NF1):c.2326-1G>T rs1567848100
NM_001042492.3(NF1):c.2326-2A>C rs1555613975
NM_001042492.3(NF1):c.2326-3T>G rs876658946
NM_001042492.3(NF1):c.2329T>A (p.Trp777Arg) rs876658853
NM_001042492.3(NF1):c.2329T>C (p.Trp777Arg) rs876658853
NM_001042492.3(NF1):c.2330G>C (p.Trp777Ser) rs199474745
NM_001042492.3(NF1):c.2338A>C (p.Thr780Pro) rs1205746953
NM_001042492.3(NF1):c.2339C>G (p.Thr780Arg) rs199474746
NM_001042492.3(NF1):c.2342A>C (p.His781Pro) rs199474763
NM_001042492.3(NF1):c.2352G>C (p.Trp784Cys) rs199474778
NM_001042492.3(NF1):c.2389del (p.Ala797fs) rs1555614016
NM_001042492.3(NF1):c.2407C>T (p.Gln803Ter) rs1567848213
NM_001042492.3(NF1):c.2410-12T>G rs876657932
NM_001042492.3(NF1):c.245C>T (p.Ser82Phe) rs199474729
NM_001042492.3(NF1):c.248A>C (p.Gln83Pro) rs1060500360
NM_001042492.3(NF1):c.2503C>T (p.Gln835Ter) rs1555614207
NM_001042492.3(NF1):c.2509T>C (p.Trp837Arg) rs587781747
NM_001042492.3(NF1):c.2509T>G (p.Trp837Gly) rs587781747
NM_001042492.3(NF1):c.2681T>C (p.Phe894Ser) rs1282493551
NM_001042492.3(NF1):c.2684T>G (p.Met895Arg) rs1555614301
NM_001042492.3(NF1):c.2693T>C (p.Leu898Pro) rs199474786
NM_001042492.3(NF1):c.2693TGT[1] (p.Leu899del) rs1064796946
NM_001042492.3(NF1):c.277T>C (p.Cys93Arg) rs1555605398
NM_001042492.3(NF1):c.2786T>C (p.Leu929Pro) rs1555614338
NM_001042492.3(NF1):c.2791_2800del (p.Pro931fs) rs1064795730
NM_001042492.3(NF1):c.2798T>C (p.Leu933Pro) rs1555614342
NM_001042492.3(NF1):c.281T>G (p.Leu94Arg) rs1597629884
NM_001042492.3(NF1):c.288+4A>G rs781459468
NM_001042492.3(NF1):c.288+5G>A rs1555605409
NM_001042492.3(NF1):c.288G>A (p.Gly96=) rs1430988476
NM_001042492.3(NF1):c.289-6T>G rs757074803
NM_001042492.3(NF1):c.2903T>G (p.Met968Arg) rs199474749
NM_001042492.3(NF1):c.2915T>C (p.Leu972Pro) rs1597716348
NM_001042492.3(NF1):c.2964dup (p.Glu989Ter) rs2067084803
NM_001042492.3(NF1):c.2975T>A (p.Met992Lys) rs1567849596
NM_001042492.3(NF1):c.2975T>G (p.Met992Arg) rs1567849596
NM_001042492.3(NF1):c.2978T>G (p.Leu993Ter) rs1555614460
NM_001042492.3(NF1):c.2984T>C (p.Leu995Pro) rs1597716466
NM_001042492.3(NF1):c.2989A>G (p.Arg997Gly) rs2067085335
NM_001042492.3(NF1):c.2990+1G>A rs1135402836
NM_001042492.3(NF1):c.2990+5G>A rs1555614464
NM_001042492.3(NF1):c.2990G>A (p.Arg997Lys) rs1555614462
NM_001042492.3(NF1):c.2991-11T>G rs2508204517
NM_001042492.3(NF1):c.2991-1G>A rs1060500273
NM_001042492.3(NF1):c.2991-2A>G rs1555614495
NM_001042492.3(NF1):c.2991G>T (p.Arg997Ser) rs755501749
NM_001042492.3(NF1):c.2999G>C (p.Arg1000Pro) rs753082620
NM_001042492.3(NF1):c.3002T>A (p.Val1001Glu) rs1131691844
NM_001042492.3(NF1):c.3047G>A (p.Cys1016Tyr) rs2067091492
NM_001042492.3(NF1):c.3058G>T (p.Glu1020Ter) rs2067091885
NM_001042492.3(NF1):c.3095del (p.Cys1032fs)
NM_001042492.3(NF1):c.3104T>A (p.Met1035Lys) rs137854553
NM_001042492.3(NF1):c.3104T>C (p.Met1035Thr) rs137854553
NM_001042492.3(NF1):c.3104T>G (p.Met1035Arg) rs137854553
NM_001042492.3(NF1):c.3106A>G (p.Lys1036Glu) rs1567849891
NM_001042492.3(NF1):c.3113+1G>C rs267606599
NM_001042492.3(NF1):c.3114-11C>G rs2151432318
NM_001042492.3(NF1):c.3197+1G>A rs1555614653
NM_001042492.3(NF1):c.3197G>A (p.Arg1066Lys) rs1555614652
NM_001042492.3(NF1):c.3198-314G>A rs2067116490
NM_001042492.3(NF1):c.3212C>T (p.Ala1071Val) rs2151433685
NM_001042492.3(NF1):c.3239T>C (p.Leu1080Pro) rs1555614833
NM_001042492.3(NF1):c.3250C>G (p.Pro1084Ala) rs1555614848
NM_001042492.3(NF1):c.3251C>G (p.Pro1084Arg) rs1164081667
NM_001042492.3(NF1):c.3251C>T (p.Pro1084Leu) rs1164081667
NM_001042492.3(NF1):c.3278T>A (p.Val1093Glu) rs2067124037
NM_001042492.3(NF1):c.3295A>G (p.Lys1099Glu) rs2151433872
NM_001042492.3(NF1):c.3311T>G (p.Leu1104Arg) rs2151433910
NM_001042492.3(NF1):c.3315-2A>C rs1555614914
NM_001042492.3(NF1):c.3317A>G (p.Tyr1106Cys) rs1567850987
NM_001042492.3(NF1):c.3388del (p.Arg1130fs)
NM_001042492.3(NF1):c.3437T>A (p.Val1146Asp) rs2067137147
NM_001042492.3(NF1):c.3445A>G (p.Met1149Val) rs1187097568
NM_001042492.3(NF1):c.3449C>T (p.Ser1150Leu) rs1555614972
NM_001042492.3(NF1):c.3461A>T (p.Asn1154Ile) rs371544233
NM_001042492.3(NF1):c.3479G>A (p.Gly1160Asp) rs2067138342
NM_001042492.3(NF1):c.3496+5G>A rs786202564
NM_001042492.3(NF1):c.3496G>A (p.Gly1166Ser) rs1597719704
NM_001042492.3(NF1):c.3496G>C (p.Gly1166Arg) rs1597719704
NM_001042492.3(NF1):c.3544G>C (p.Val1182Leu) rs1555615027
NM_001042492.3(NF1):c.3545T>G (p.Val1182Gly) rs2067142076
NM_001042492.3(NF1):c.3568G>A (p.Gly1190Ser) rs1597719982
NM_001042492.3(NF1):c.3586C>G (p.Leu1196Val) rs1555615039
NM_001042492.3(NF1):c.3587T>G (p.Leu1196Arg) rs199474741
NM_001042492.3(NF1):c.3596C>T (p.Thr1199Ile) rs1555615047
NM_001042492.3(NF1):c.3610C>G (p.Arg1204Gly) rs199474732
NM_001042492.3(NF1):c.3641T>A (p.Met1214Lys) rs1567851416
NM_001042492.3(NF1):c.3655G>A (p.Gly1219Arg) rs2067144197
NM_001042492.3(NF1):c.3656_3658del (p.Gly1219del) rs1555615077
NM_001042492.3(NF1):c.3662T>G (p.Leu1221Arg) rs1597720167
NM_001042492.3(NF1):c.3706T>C (p.Trp1236Arg) rs1555615111
NM_001042492.3(NF1):c.3708+5G>A rs1597720280
NM_001042492.3(NF1):c.3728T>C (p.Leu1243Pro) rs137854564
NM_001042492.3(NF1):c.3737T>C (p.Leu1246Pro) rs2151437777
NM_001042492.3(NF1):c.3767T>G (p.Leu1256Arg) rs1555615457
NM_001042492.3(NF1):c.3831C>T (p.Gly1277=) rs1597722611
NM_001042492.3(NF1):c.3834C>G (p.Asn1278Lys) rs1135402850
NM_001042492.3(NF1):c.3851del (p.Ile1284fs) rs2508260471
NM_001042492.3(NF1):c.3870+1G>C rs1131691075
NM_001042492.3(NF1):c.3875A>G (p.Tyr1292Cys) rs1060500243
NM_001042492.3(NF1):c.3904_3905del (p.Asp1302fs)
NM_001042492.3(NF1):c.3974+260T>G rs1567853044
NM_001042492.3(NF1):c.3974G>C (p.Arg1325Thr) rs863224447
NM_001042492.3(NF1):c.4016T>G (p.Leu1339Arg) rs1567858306
NM_001042492.3(NF1):c.4064C>G (p.Ser1355Ter) rs1131691087
NM_001042492.3(NF1):c.4110+1G>A rs1555617383
NM_001042492.3(NF1):c.4110+1G>T rs1555617383
NM_001042492.3(NF1):c.412G>C (p.Ala138Pro) rs1597635936
NM_001042492.3(NF1):c.4207_4208insCCCG (p.Gly1403fs)
NM_001042492.3(NF1):c.4231C>T (p.Leu1411Phe) rs199474789
NM_001042492.3(NF1):c.4235G>C (p.Arg1412Thr) rs1555618516
NM_001042492.3(NF1):c.4235G>T (p.Arg1412Ile) rs1555618516
NM_001042492.3(NF1):c.4236A>T (p.Arg1412Ser) rs137854554
NM_001042492.3(NF1):c.4243A>C (p.Asn1415His) rs1555618518
NM_001042492.3(NF1):c.4247C>T (p.Pro1416Leu) rs1555618521
NM_001042492.3(NF1):c.4318A>C (p.Lys1440Gln) rs199474790
NM_001042492.3(NF1):c.4328C>T (p.Ser1443Leu) rs1555618566
NM_001042492.3(NF1):c.4332G>A (p.Lys1444=) rs199474750
NM_001042492.3(NF1):c.4332G>T (p.Lys1444Asn) rs199474750
NM_001042492.3(NF1):c.4337T>C (p.Leu1446Pro) rs199474733
NM_001042492.3(NF1):c.4340A>G (p.Gln1447Arg) rs786204157
NM_001042492.3(NF1):c.4341G>C (p.Gln1447His) rs876660206
NM_001042492.3(NF1):c.4348G>A (p.Ala1450Thr) rs2151462979
NM_001042492.3(NF1):c.4352A>T (p.Asn1451Ile) rs199474754
NM_001042492.3(NF1):c.4369A>G (p.Lys1457Glu) rs878853893
NM_001042492.3(NF1):c.4369_4371del (p.Lys1457del) rs1555618653
NM_001042492.3(NF1):c.4372GAA[1] (p.Glu1459del) rs267606607
NM_001042492.3(NF1):c.4373A>T (p.Glu1458Val) rs878853894
NM_001042492.3(NF1):c.4382T>A (p.Met1461Lys) rs754639587
NM_001042492.3(NF1):c.4382T>G (p.Met1461Arg) rs754639587
NM_001042492.3(NF1):c.4406_4418del (p.Lys1469fs) rs1567862349
NM_001042492.3(NF1):c.4468del (p.Asp1490fs)
NM_001042492.3(NF1):c.4532T>C (p.Leu1511Pro) rs1135402864
NM_001042492.3(NF1):c.4544A>G (p.Gln1515Arg) rs1135402865
NM_001042492.3(NF1):c.4557del (p.Gln1520fs) rs2508421944
NM_001042492.3(NF1):c.4578-1G>C rs1555618999
NM_001042492.3(NF1):c.4604_4606del (p.Pro1535_Phe1536delinsLeu) rs2508429324
NM_001042492.3(NF1):c.4627C>T (p.Leu1543Phe) rs2151466305
NM_001042492.3(NF1):c.4724+1G>C rs1555619056
NM_001042492.3(NF1):c.4724G>C (p.Arg1575Thr) rs2151466553
NM_001042492.3(NF1):c.4760del (p.Ala1586_Leu1587insTer) rs2151470108
NM_001042492.3(NF1):c.4791dup (p.Thr1598fs) rs1253123816
NM_001042492.3(NF1):c.4796C>A (p.Ser1599Tyr) rs1555619407
NM_001042492.3(NF1):c.4812_4814delinsA (p.Ile1605fs) rs2508445662
NM_001042492.3(NF1):c.4819TAT[1] (p.Tyr1608del) rs2508445730
NM_001042492.3(NF1):c.4834A>G (p.Arg1612Gly) rs755137259
NM_001042492.3(NF1):c.4835+1G>T rs1085307819
NM_001042492.3(NF1):c.4835+1_4835+9del
NM_001042492.3(NF1):c.4836-1G>A rs1057518326
NM_001042492.3(NF1):c.4877A>C (p.His1626Pro) rs2151537617
NM_001042492.3(NF1):c.4880T>A (p.Val1627Asp) rs1567611231
NM_001042492.3(NF1):c.4934T>G (p.Leu1645Arg) rs1555533305
NM_001042492.3(NF1):c.4947del (p.Pro1650fs) rs2151537841
NM_001042492.3(NF1):c.5033A>C (p.Tyr1678Ser) rs1555533347
NM_001042492.3(NF1):c.5103del (p.Gly1702fs)
NM_001042492.3(NF1):c.5157del (p.Ile1719fs) rs1555533382
NM_001042492.3(NF1):c.5170C>T (p.Gln1724Ter) rs1567611587
NM_001042492.3(NF1):c.5247dup (p.Asp1750fs) rs1555533409
NM_001042492.3(NF1):c.5253dup (p.Lys1752fs) rs2508698683
NM_001042492.3(NF1):c.5268+1G>A rs2069338793
NM_001042492.3(NF1):c.5268+3_5268+6del rs773428383
NM_001042492.3(NF1):c.5269-14C>G rs753463683
NM_001042492.3(NF1):c.5269-1G>C rs876660141
NM_001042492.3(NF1):c.5269-38A>G rs2151540615
NM_001042492.3(NF1):c.543_545dup (p.Tyr182Ter) rs2544719194
NM_001042492.3(NF1):c.5483G>C (p.Arg1828Pro) rs876660298
NM_001042492.3(NF1):c.5488C>G (p.Arg1830Gly) rs797045139
NM_001042492.3(NF1):c.5489G>A (p.Arg1830His) rs771529172
NM_001042492.3(NF1):c.5498T>C (p.Leu1833Pro) rs2151541565
NM_001042492.3(NF1):c.5516del (p.Ile1839fs) rs1597832304
NM_001042492.3(NF1):c.5534T>C (p.Ile1845Thr) rs1060500339
NM_001042492.3(NF1):c.5534T>G (p.Ile1845Ser) rs1060500339
NM_001042492.3(NF1):c.5545G>A (p.Asp1849Asn) rs2151541722
NM_001042492.3(NF1):c.5551C>T (p.Pro1851Ser) rs267604793
NM_001042492.3(NF1):c.5552C>A (p.Pro1851His) rs1555533638
NM_001042492.3(NF1):c.5577dup (p.Leu1860fs) rs2151541844
NM_001042492.3(NF1):c.5609+5del
NM_001042492.3(NF1):c.5610-3T>G rs2069447812
NM_001042492.3(NF1):c.5625TCT[1] (p.Leu1877del) rs1131691081
NM_001042492.3(NF1):c.5652T>A (p.Phe1884Leu) rs1567613616
NM_001042492.3(NF1):c.5668G>C (p.Gly1890Arg) rs1597834706
NM_001042492.3(NF1):c.5668_5669delinsTT (p.Gly1890Phe)
NM_001042492.3(NF1):c.5744T>C (p.Leu1915Pro) rs1555533875
NM_001042492.3(NF1):c.5771T>G (p.Leu1924Ter) rs1198491194
NM_001042492.3(NF1):c.5788T>C (p.Cys1930Arg) rs2069454402
NM_001042492.3(NF1):c.5856G>T (p.Trp1952Cys)
NM_001042492.3(NF1):c.586delinsTTAA (p.Glu196delinsLeuLys) rs1555607123
NM_001042492.3(NF1):c.587-1G>C rs2143773909
NM_001042492.3(NF1):c.587-3C>A rs375188075
NM_001042492.3(NF1):c.5933T>C (p.Leu1978Pro) rs2069606635
NM_001042492.3(NF1):c.6002G>C (p.Gly2001Ala)
NM_001042492.3(NF1):c.6007-1G>C rs1555534596
NM_001042492.3(NF1):c.6007-1G>T rs1555534596
NM_001042492.3(NF1):c.6022G>C (p.Asp2008His) rs786201924
NM_001042492.3(NF1):c.6023A>G (p.Asp2008Gly) rs2069668717
NM_001042492.3(NF1):c.61-1G>C
NM_001042492.3(NF1):c.61-2A>G rs1131691100
NM_001042492.3(NF1):c.61-7486G>T rs1597617010
NM_001042492.3(NF1):c.6109G>A (p.Ala2037Thr) rs1555534612
NM_001042492.3(NF1):c.6118T>C (p.Ser2040Pro) rs1567616704
NM_001042492.3(NF1):c.6119C>T (p.Ser2040Phe) rs2069671270
NM_001042492.3(NF1):c.6147+2T>C rs1555534621
NM_001042492.3(NF1):c.6148-6T>G
NM_001042492.3(NF1):c.6295C>T (p.His2099Tyr) rs1060500382
NM_001042492.3(NF1):c.6320_6345dup (p.Leu2116_Ser2117insLeuSerTer) rs2508749399
NM_001042492.3(NF1):c.6350_6353del (p.Ser2117fs) rs1064795492
NM_001042492.3(NF1):c.6398T>G (p.Leu2133Arg) rs2069690617
NM_001042492.3(NF1):c.6404C>T (p.Thr2135Ile) rs1555534770
NM_001042492.3(NF1):c.6423del (p.Phe2141fs)
NM_001042492.3(NF1):c.6427+5G>A rs1060500311
NM_001042492.3(NF1):c.6428-11T>G rs2151555896
NM_001042492.3(NF1):c.6428-3C>G rs374014162
NM_001042492.3(NF1):c.6458T>C (p.Leu2153Pro) rs2069704188
NM_001042492.3(NF1):c.647T>G (p.Leu216Arg) rs199474756
NM_001042492.3(NF1):c.6507del (p.Val2170fs)
NM_001042492.3(NF1):c.6556_6557del (p.Ser2186fs) rs2069706454
NM_001042492.3(NF1):c.660_665del (p.Asn222_Trp223del) rs1064796137
NM_001042492.3(NF1):c.6642+18A>G rs1555534893
NM_001042492.3(NF1):c.6642G>C (p.Glu2214Asp) rs876660207
NM_001042492.3(NF1):c.667T>C (p.Trp223Arg) rs1555608740
NM_001042492.3(NF1):c.6704+1del rs1597844692
NM_001042492.3(NF1):c.6705-3C>G rs1131691079
NM_001042492.3(NF1):c.6747TGT[1] (p.Val2251del) rs2069725866
NM_001042492.3(NF1):c.6794del (p.Lys2265fs) rs1597845155
NM_001042492.3(NF1):c.6798del (p.Gln2266_Ile2267insTer) rs2069727438
NM_001042492.3(NF1):c.6819+3A>G rs1555534966
NM_001042492.3(NF1):c.6921+1G>T rs1060500355
NM_001042492.3(NF1):c.6921+3A>G rs1085307885
NM_001042492.3(NF1):c.6921+4A>G rs752841251
NM_001042492.3(NF1):c.6922-1G>C rs1131691115
NM_001042492.3(NF1):c.6922-2A>G rs864622509
NM_001042492.3(NF1):c.6953_6955dup (p.Val2318_Ala2319insVal) rs2508770046
NM_001042492.3(NF1):c.7013T>C (p.Leu2338Pro) rs2151561836
NM_001042492.3(NF1):c.7062+1del
NM_001042492.3(NF1):c.7063-4A>G rs749805168
NM_001042492.3(NF1):c.7153AACTTT[1] (p.2385NF[1]) rs864622639
NM_001042492.3(NF1):c.7181T>C (p.Leu2394Pro) rs1135402899
NM_001042492.3(NF1):c.7189G>A (p.Gly2397Arg) rs1135402900
NM_001042492.3(NF1):c.7190-1G>C rs2070073417
NM_001042492.3(NF1):c.7226C>T (p.Thr2409Ile) rs1597858415
NM_001042492.3(NF1):c.722_730delATATGGCTG (p.Asp241_Ala243del) rs1567826158
NM_001042492.3(NF1):c.722del (p.Asp241fs)
NM_001042492.3(NF1):c.7246CTA[1] (p.Leu2417del) rs1555536023
NM_001042492.3(NF1):c.7252dup (p.Thr2418fs)
NM_001042492.3(NF1):c.7295_7297delinsTT (p.Asn2432fs)
NM_001042492.3(NF1):c.730G>A (p.Glu244Lys) rs1567826188
NM_001042492.3(NF1):c.731-14T>G rs1597659694
NM_001042492.3(NF1):c.7317AGC[1] (p.Ala2441del) rs1085307506
NM_001042492.3(NF1):c.7384del (p.Leu2462fs)
NM_001042492.3(NF1):c.7450_7453del (p.Ser2484fs)
NM_001042492.3(NF1):c.7577dup (p.Met2526fs) rs1555536367
NM_001042492.3(NF1):c.7647del (p.Asp2550fs) rs1597865773
NM_001042492.3(NF1):c.7666dup (p.Arg2556fs) rs2151581134
NM_001042492.3(NF1):c.7949_7950del (p.Phe2650fs) rs2070298779
NM_001042492.3(NF1):c.7970+5G>A rs1567627286
NM_001042492.3(NF1):c.7970+5G>T rs1567627286
NM_001042492.3(NF1):c.7971-321C>G rs2070316606
NM_001042492.3(NF1):c.79C>T (p.Gln27Ter) rs1060500363
NM_001042492.3(NF1):c.8089C>T (p.Gln2697Ter) rs2151585114
NM_001042492.3(NF1):c.809A>C (p.Gln270Pro) rs1597659939
NM_001042492.3(NF1):c.888+789A>G rs1597660974
NM_001042492.3(NF1):c.972T>A (p.Cys324Ter) rs1597680938

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