ClinVar Miner

List of variants in gene NF1 reported as pathogenic by Invitae

Minimum submission review status: Collection method:
Minimum conflict level:
Gene type:
ClinVar version:
Total variants: 399
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HGVS dbSNP
NC_000017.10:g.(?_29486022)_(29533395_?)del
NC_000017.10:g.(?_29508434)_(29509689_?)del
NC_000017.11:g.(?_31163186)_(31163376_?)del
NC_000017.11:g.(?_31163186)_(31169997_?)del
NC_000017.11:g.(?_31200412)_(31206381_?)del
NC_000017.11:g.(?_31200412)_(31265349_?)del
NC_000017.11:g.(?_31260349)_(31265359_?)dup
NC_000017.11:g.(?_31325814)_(31338145_?)del
NC_000017.11:g.(?_31327499)_(31327839_?)del
NC_000017.11:g.(?_31334828)_(31335041_?)del
NC_000017.11:g.(?_31334832)_(31335037_?)del
NC_000017.11:g.(?_31343009)_(31343135_?)del
NM_000267.3(NF1):c.1058delT (p.Lys354Argfs) rs863224488
NM_000267.3(NF1):c.1063-2A>G rs1060500358
NM_000267.3(NF1):c.1094C>A (p.Ser365Ter) rs864622107
NM_000267.3(NF1):c.1139T>C (p.Leu380Pro) rs1555611004
NM_000267.3(NF1):c.1185+1G>A rs864622161
NM_000267.3(NF1):c.1238C>G (p.Ser413Ter)
NM_000267.3(NF1):c.1246C>T (p.Arg416Ter) rs764079291
NM_000267.3(NF1):c.1260+1G>A rs267606603
NM_000267.3(NF1):c.1260+1G>T
NM_000267.3(NF1):c.1299T>G (p.Tyr433Ter) rs876660099
NM_000267.3(NF1):c.129_130ins568 (p.?)
NM_000267.3(NF1):c.1331delG (p.Gly444Valfs)
NM_000267.3(NF1):c.1343dupA (p.His448Glnfs) rs1555611584
NM_000267.3(NF1):c.1344dup (p.Lys449Terfs)
NM_000267.3(NF1):c.1354C>T (p.Gln452Ter) rs1555611590
NM_000267.3(NF1):c.1381C>T (p.Arg461Ter) rs878853865
NM_000267.3(NF1):c.1466A>G (p.Tyr489Cys) rs137854557
NM_000267.3(NF1):c.1469_1470insTTAT (p.Lys490Asnfs) rs1060500307
NM_000267.3(NF1):c.1514delA (p.Lys505Serfs) rs1555612289
NM_000267.3(NF1):c.1525delT (p.Cys509Valfs)
NM_000267.3(NF1):c.1527+1G>A rs1060500331
NM_000267.3(NF1):c.1549G>T (p.Glu517Ter) rs587778548
NM_000267.3(NF1):c.1595T>C (p.Leu532Pro) rs199474737
NM_000267.3(NF1):c.1595T>G (p.Leu532Arg) rs199474737
NM_000267.3(NF1):c.1603C>T (p.Gln535Ter)
NM_000267.3(NF1):c.1618G>T (p.Glu540Ter)
NM_000267.3(NF1):c.1619delA (p.Glu540Glyfs)
NM_000267.3(NF1):c.1627C>T (p.Gln543Ter) rs894292181
NM_000267.3(NF1):c.1658A>G (p.His553Arg) rs1064794274
NM_000267.3(NF1):c.1680delG (p.Leu560Phefs)
NM_000267.3(NF1):c.1713G>A (p.Trp571Ter) rs863224489
NM_000267.3(NF1):c.1721+1G>A rs1131691096
NM_000267.3(NF1):c.1721+3A>G rs1057518904
NM_000267.3(NF1):c.1721G>A (p.Ser574Asn) rs1555613206
NM_000267.3(NF1):c.1724C>G (p.Ser575Ter)
NM_000267.3(NF1):c.1726C>T (p.Gln576Ter) rs1060500278
NM_000267.3(NF1):c.1738dup (p.Tyr580Leufs) rs786204255
NM_000267.3(NF1):c.1765C>T (p.Gln589Ter)
NM_000267.3(NF1):c.1782_1783delAG (p.Glu595Asnfs) rs786204059
NM_000267.3(NF1):c.1797G>A (p.Trp599Ter)
NM_000267.3(NF1):c.1815delC (p.Cys606Alafs)
NM_000267.3(NF1):c.1818C>A (p.Cys606Ter)
NM_000267.3(NF1):c.1845+1G>A
NM_000267.3(NF1):c.1857_1863del (p.Arg619Serfs)
NM_000267.3(NF1):c.1882dup (p.Tyr628Leufs) rs1555613558
NM_000267.3(NF1):c.1884C>A (p.Tyr628Ter) rs555635097
NM_000267.3(NF1):c.1912G>T (p.Gly638Ter) rs1555613567
NM_000267.3(NF1):c.2034delG (p.Ile679Phefs)
NM_000267.3(NF1):c.204+1G>A rs886039548
NM_000267.3(NF1):c.204+3_204+6delGAGT
NM_000267.3(NF1):c.2041C>T (p.Arg681Ter) rs768638173
NM_000267.3(NF1):c.2041delC (p.Arg681Aspfs)
NM_000267.3(NF1):c.205-1G>C rs1555605362
NM_000267.3(NF1):c.2062G>T (p.Glu688Ter) rs1555613784
NM_000267.3(NF1):c.2064dup (p.Val689Serfs) rs1555613786
NM_000267.3(NF1):c.206_207delGA (p.Arg69Asnfs) rs1060500321
NM_000267.3(NF1):c.2071delC (p.Leu691Cysfs) rs1060500364
NM_000267.3(NF1):c.2148_2159delAGCAGATATCCGinsTGAAGTGTCT (p.Glu716Aspfs)
NM_000267.3(NF1):c.2167delG (p.Val723Trpfs)
NM_000267.3(NF1):c.2210_2211delCA (p.Thr737Ilefs) rs1555613831
NM_000267.3(NF1):c.2266C>T (p.Gln756Ter)
NM_000267.3(NF1):c.2294_2300delGCATTGA (p.Glu767Profs) rs786204154
NM_000267.3(NF1):c.2322_2323delTG (p.Glu775Glyfs)
NM_000267.3(NF1):c.2325+1G>T
NM_000267.3(NF1):c.2338dup (p.Thr780Asnfs)
NM_000267.3(NF1):c.2352G>A (p.Trp784Ter) rs199474778
NM_000267.3(NF1):c.2380delT (p.Tyr794Ilefs)
NM_000267.3(NF1):c.2407C>T (p.Gln803Ter)
NM_000267.3(NF1):c.2409+1G>C rs1555614022
NM_000267.3(NF1):c.2409+2delT rs878853875
NM_000267.3(NF1):c.2411delC (p.Ala804Valfs) rs1555614180
NM_000267.3(NF1):c.2424delT (p.His809Thrfs)
NM_000267.3(NF1):c.2434delA (p.Ile812Leufs)
NM_000267.3(NF1):c.2446C>T (p.Arg816Ter) rs886041347
NM_000267.3(NF1):c.2449dup (p.Met817Asnfs)
NM_000267.3(NF1):c.246_247delTC (p.Gln83Valfs) rs771115661
NM_000267.3(NF1):c.2503C>T (p.Gln835Ter) rs1555614207
NM_000267.3(NF1):c.2531T>G (p.Leu844Arg) rs137854566
NM_000267.3(NF1):c.2540T>G (p.Leu847Arg)
NM_000267.3(NF1):c.2542G>C (p.Gly848Arg) rs1060500368
NM_000267.3(NF1):c.2604dupT (p.Pro869Serfs) rs878853877
NM_000267.3(NF1):c.2619dupT (p.Lys874Terfs) rs1555614284
NM_000267.3(NF1):c.2622_2629del (p.Lys874Asnfs)
NM_000267.3(NF1):c.2668_2677delCCTGTCAGCA (p.Pro890Asnfs) rs1555614293
NM_000267.3(NF1):c.2674delA (p.Ser892Alafs) rs1555614296
NM_000267.3(NF1):c.2729dupG (p.Leu911Thrfs) rs1555614313
NM_000267.3(NF1):c.2802delT (p.Phe934Leufs) rs1555614343
NM_000267.3(NF1):c.2848C>T (p.Gln950Ter) rs1060500357
NM_000267.3(NF1):c.2870delA (p.Asn957Ilefs) rs1555614423
NM_000267.3(NF1):c.288+1G>T
NM_000267.3(NF1):c.288+2T>A rs1555605406
NM_000267.3(NF1):c.288+2T>C
NM_000267.3(NF1):c.288+5G>T rs1555605409
NM_000267.3(NF1):c.2953C>T (p.Gln985Ter) rs1555614455
NM_000267.3(NF1):c.2970_2972delAAT (p.Met992del) rs267606606
NM_000267.3(NF1):c.298delG (p.Asp100Thrfs)
NM_000267.3(NF1):c.2991-1G>A rs1060500273
NM_000267.3(NF1):c.2991-1G>C rs1060500273
NM_000267.3(NF1):c.3043delC (p.Leu1015Cysfs) rs1555614514
NM_000267.3(NF1):c.3046T>C (p.Cys1016Arg) rs878853880
NM_000267.3(NF1):c.3064delA (p.Met1022Terfs) rs878853881
NM_000267.3(NF1):c.3075delG (p.Arg1026Glufs) rs1555614526
NM_000267.3(NF1):c.3089C>G (p.Ser1030Ter)
NM_000267.3(NF1):c.3094dup (p.Cys1032Leufs) rs1555614535
NM_000267.3(NF1):c.3113+1G>A rs267606599
NM_000267.3(NF1):c.3113+1G>T rs267606599
NM_000267.3(NF1):c.3113+5G>A rs1555614549
NM_000267.3(NF1):c.311_312delTA (p.Leu104Terfs) rs1555606053
NM_000267.3(NF1):c.3138_3139delAG (p.Asp1047Leufs) rs863224490
NM_000267.3(NF1):c.3144G>A (p.Trp1048Ter) rs1555614635
NM_000267.3(NF1):c.3161_3165delACCAA (p.Asn1054Serfs) rs1555614642
NM_000267.3(NF1):c.3197G>C (p.Arg1066Thr) rs1555614652
NM_000267.3(NF1):c.3214dup (p.Ser1072Lysfs) rs1555614825
NM_000267.3(NF1):c.3250_3251dupCC (p.Gln1086Cysfs) rs1555614845
NM_000267.3(NF1):c.3277G>A (p.Val1093Met) rs1555614858
NM_000267.3(NF1):c.328delG (p.Val110Serfs)
NM_000267.3(NF1):c.3301_3302delCA (p.Gln1101Valfs) rs1555614866
NM_000267.3(NF1):c.3315-1G>C
NM_000267.3(NF1):c.3361G>T (p.Glu1121Ter)
NM_000267.3(NF1):c.3376C>T (p.Gln1126Ter) rs1555614947
NM_000267.3(NF1):c.3384delT (p.Gly1129Alafs)
NM_000267.3(NF1):c.3431_3432dup (p.Thr1145Valfs) rs1555614966
NM_000267.3(NF1):c.3445A>G (p.Met1149Val) rs1187097568
NM_000267.3(NF1):c.3447G>C (p.Met1149Ile)
NM_000267.3(NF1):c.3447G>T (p.Met1149Ile) rs1064794277
NM_000267.3(NF1):c.3494T>A (p.Ile1165Lys) rs786204211
NM_000267.3(NF1):c.3497delG (p.Gly1166Alafs)
NM_000267.3(NF1):c.3500T>G (p.Leu1167Ter) rs786204253
NM_000267.3(NF1):c.3565C>T (p.Gln1189Ter) rs878853884
NM_000267.3(NF1):c.3567delA (p.Gly1190Alafs) rs1060500271
NM_000267.3(NF1):c.3623T>A (p.Leu1208Ter) rs1060500374
NM_000267.3(NF1):c.3657dup (p.Glu1220Argfs)
NM_000267.3(NF1):c.3695delC (p.Pro1232Leufs)
NM_000267.3(NF1):c.3707G>A (p.Trp1236Ter) rs1252674239
NM_000267.3(NF1):c.3709-1G>A rs1555615431
NM_000267.3(NF1):c.3712G>T (p.Glu1238Ter) rs1060500346
NM_000267.3(NF1):c.3739_3742delTTTG (p.Phe1247Ilefs) rs1064794276
NM_000267.3(NF1):c.3763C>T (p.Gln1255Ter) rs1060500308
NM_000267.3(NF1):c.3773G>A (p.Trp1258Ter) rs1555615458
NM_000267.3(NF1):c.3822_3823delCT (p.Phe1275Profs) rs1555615472
NM_000267.3(NF1):c.3826C>T (p.Arg1276Ter) rs199474742
NM_000267.3(NF1):c.3827G>C (p.Arg1276Pro) rs137854556
NM_000267.3(NF1):c.3870+1G>T
NM_000267.3(NF1):c.3897delA (p.Lys1299Asnfs) rs878853890
NM_000267.3(NF1):c.3916C>T (p.Arg1306Ter) rs376576925
NM_000267.3(NF1):c.3974+1G>C
NM_000267.3(NF1):c.3975-2A>G rs864622431
NM_000267.3(NF1):c.397delG (p.Glu133Asnfs) rs878853891
NM_000267.3(NF1):c.3986C>A (p.Ser1329Ter) rs1060500319
NM_000267.3(NF1):c.4000G>T (p.Glu1334Ter)
NM_000267.3(NF1):c.4020delT (p.Gln1341Argfs)
NM_000267.3(NF1):c.4021C>T (p.Gln1341Ter) rs137854559
NM_000267.3(NF1):c.4030G>T (p.Glu1344Ter) rs1555617328
NM_000267.3(NF1):c.4044delT (p.His1348Glnfs)
NM_000267.3(NF1):c.4070delT (p.Phe1357Serfs) rs1555617354
NM_000267.3(NF1):c.4084C>T (p.Arg1362Ter) rs137854560
NM_000267.3(NF1):c.4110+1G>A rs1555617383
NM_000267.3(NF1):c.4110+1G>T
NM_000267.3(NF1):c.4166delT (p.Phe1389Serfs) rs1555618511
NM_000267.3(NF1):c.4168C>T (p.Leu1390Phe) rs199474789
NM_000267.3(NF1):c.4199delC (p.Pro1400Argfs)
NM_000267.3(NF1):c.4230_4231dupAC (p.Pro1411Hisfs) rs1555618552
NM_000267.3(NF1):c.4243G>T (p.Glu1415Ter) rs876660428
NM_000267.3(NF1):c.4255A>G (p.Lys1419Glu) rs199474790
NM_000267.3(NF1):c.4267A>G (p.Lys1423Glu) rs137854550
NM_000267.3(NF1):c.4269G>C (p.Lys1423Asn) rs199474750
NM_000267.3(NF1):c.4289A>T (p.Asn1430Ile) rs199474754
NM_000267.3(NF1):c.4306A>G (p.Lys1436Glu) rs878853893
NM_000267.3(NF1):c.4368-?_5943+?del
NM_000267.3(NF1):c.4375delC (p.Asp1460Ilefs) rs1555618806
NM_000267.3(NF1):c.4393delT (p.Cys1465Valfs)
NM_000267.3(NF1):c.4419_4420delTA (p.His1473Glnfs) rs1555618821
NM_000267.3(NF1):c.4420dupA (p.Ser1474Lysfs) rs878853896
NM_000267.3(NF1):c.4463delG (p.Arg1488Leufs)
NM_000267.3(NF1):c.4480C>T (p.Gln1494Ter)
NM_000267.3(NF1):c.4483G>T (p.Glu1495Ter) rs786203390
NM_000267.3(NF1):c.4495C>T (p.Gln1499Ter) rs1060500242
NM_000267.3(NF1):c.449delT (p.Phe150Serfs)
NM_000267.3(NF1):c.4511dupA (p.Asn1504Lysfs) rs1555618862
NM_000267.3(NF1):c.4514+1G>A rs1279529138
NM_000267.3(NF1):c.4514+1G>T
NM_000267.3(NF1):c.4515-2A>G rs1555618996
NM_000267.3(NF1):c.4535delG (p.Arg1512Asnfs) rs1060500292
NM_000267.3(NF1):c.4537C>T (p.Arg1513Ter) rs760703505
NM_000267.3(NF1):c.4600delG (p.Ala1534Glnfs)
NM_000267.3(NF1):c.4621delC (p.Asn1542Thrfs) rs1555619041
NM_000267.3(NF1):c.4640delA (p.Lys1547Serfs) rs1555619052
NM_000267.3(NF1):c.4648G>T (p.Glu1550Ter)
NM_000267.3(NF1):c.4661+1G>A rs1555619056
NM_000267.3(NF1):c.4684_4685dupGA (p.Phe1563Asnfs) rs1555619397
NM_000267.3(NF1):c.4686delA (p.Glu1562Aspfs)
NM_000267.3(NF1):c.4707_4714del (p.Leu1569Phefs) rs1555619402
NM_000267.3(NF1):c.479+1G>A rs1555606137
NM_000267.3(NF1):c.479+5G>A
NM_000267.3(NF1):c.4829delT (p.Leu1610Terfs) rs1555533290
NM_000267.3(NF1):c.484C>T (p.Gln162Ter) rs1555607073
NM_000267.3(NF1):c.4854T>A (p.Tyr1618Ter) rs1555533297
NM_000267.3(NF1):c.4903delA (p.Thr1635Glnfs)
NM_000267.3(NF1):c.4904_4905delCA (p.Thr1635Argfs) rs1555533323
NM_000267.3(NF1):c.4920_4922delGTGinsCTTA (p.Lys1640Asnfs) rs1555533326
NM_000267.3(NF1):c.4922G>A (p.Trp1641Ter)
NM_000267.3(NF1):c.4926delT (p.Phe1642Leufs)
NM_000267.3(NF1):c.4950C>A (p.Tyr1650Ter) rs1060500255
NM_000267.3(NF1):c.4950_4954dup (p.Asn1652Thrfs) rs1555533336
NM_000267.3(NF1):c.496_497delGT (p.Val166Leufs) rs1135402788
NM_000267.3(NF1):c.4992G>A (p.Trp1664Ter) rs1555533354
NM_000267.3(NF1):c.5020_5021dupCG (p.Leu1675Glyfs) rs1555533366
NM_000267.3(NF1):c.503C>G (p.Ser168Ter) rs1131691994
NM_000267.3(NF1):c.5115delA (p.Pro1706Leufs) rs1555533393
NM_000267.3(NF1):c.5129T>A (p.Leu1710Ter)
NM_000267.3(NF1):c.5205+5G>A rs864622551
NM_000267.3(NF1):c.5206-41_5228del rs1555533543
NM_000267.3(NF1):c.5242C>T (p.Arg1748Ter) rs876657714
NM_000267.3(NF1):c.5284delT (p.Tyr1762Ilefs)
NM_000267.3(NF1):c.529dup (p.Ile177Asnfs) rs1555607093
NM_000267.3(NF1):c.5398delG (p.Val1800Serfs)
NM_000267.3(NF1):c.5425C>T (p.Arg1809Cys) rs797045139
NM_000267.3(NF1):c.5426G>T (p.Arg1809Leu) rs771529172
NM_000267.3(NF1):c.5458C>T (p.Gln1820Ter) rs786203570
NM_000267.3(NF1):c.5472delT (p.Arg1825Glyfs)
NM_000267.3(NF1):c.5498T>G (p.Leu1833Arg) rs878853903
NM_000267.3(NF1):c.5498delT (p.Leu1833Argfs) rs1555533644
NM_000267.3(NF1):c.5523delA (p.Gly1842Alafs) rs1555533648
NM_000267.3(NF1):c.5546+1G>A rs1131691117
NM_000267.3(NF1):c.5608C>T (p.Gln1870Ter) rs878853904
NM_000267.3(NF1):c.5636delT (p.Ile1879Thrfs) rs1060500353
NM_000267.3(NF1):c.5660_5679del (p.Ile1887Thrfs)
NM_000267.3(NF1):c.5668_5671dupATTA (p.Ser1891Asnfs) rs1555533871
NM_000267.3(NF1):c.569T>G (p.Leu190Ter) rs1555607112
NM_000267.3(NF1):c.569delT (p.Leu190Terfs) rs1555607110
NM_000267.3(NF1):c.5723delA (p.Glu1908Glyfs) rs1555533883
NM_000267.3(NF1):c.5749+332A>G rs863224491
NM_000267.3(NF1):c.574C>T (p.Arg192Ter) rs397514641
NM_000267.3(NF1):c.5770delT (p.Cys1924Valfs) rs1555534379
NM_000267.3(NF1):c.5839C>T (p.Arg1947Ter) rs137854552
NM_000267.3(NF1):c.5844_5845delAA (p.Arg1949Serfs) rs863224835
NM_000267.3(NF1):c.5845_5846insTA (p.Arg1949Ilefs) rs1060500354
NM_000267.3(NF1):c.5862delT (p.Asp1955Thrfs) rs1060500349
NM_000267.3(NF1):c.5880delG (p.Met1960Ilefs)
NM_000267.3(NF1):c.58C>T (p.Gln20Ter)
NM_000267.3(NF1):c.592delG (p.Ala198Hisfs)
NM_000267.3(NF1):c.5941C>T (p.Gln1981Ter)
NM_000267.3(NF1):c.5944-5A>G rs267606604
NM_000267.3(NF1):c.594delA (p.Phe199Leufs) rs1555608647
NM_000267.3(NF1):c.6027dup (p.Met2010Aspfs) rs1555534611
NM_000267.3(NF1):c.607delG (p.Ala203Profs)
NM_000267.3(NF1):c.6084+1G>A rs1060500296
NM_000267.3(NF1):c.6111delT (p.Ile2037Metfs)
NM_000267.3(NF1):c.6212delA (p.Asn2071Ilefs) rs1555534697
NM_000267.3(NF1):c.6253_6296dup (p.Ser2100Leufs)
NM_000267.3(NF1):c.6302_6303insGG (p.His2102Aspfs) rs1555534751
NM_000267.3(NF1):c.6334_6335delCT (p.Leu2112Valfs)
NM_000267.3(NF1):c.6339T>A (p.Cys2113Ter) rs1555534766
NM_000267.3(NF1):c.6364+2T>G
NM_000267.3(NF1):c.6365-2A>G rs1060500312
NM_000267.3(NF1):c.6424_6425delTT (p.Leu2142Alafs) rs1060500338
NM_000267.3(NF1):c.649G>T (p.Glu217Ter) rs878853909
NM_000267.3(NF1):c.6522_6523delGA (p.Glu2174Aspfs) rs1131691084
NM_000267.3(NF1):c.655-2A>C rs1555608734
NM_000267.3(NF1):c.6604delT (p.Cys2202Alafs) rs1555534917
NM_000267.3(NF1):c.6636delT (p.Gln2213Lysfs) rs1060500268
NM_000267.3(NF1):c.6637C>T (p.Gln2213Ter)
NM_000267.3(NF1):c.6641+1G>A rs1060500376
NM_000267.3(NF1):c.6659dup (p.Asn2220Lysfs)
NM_000267.3(NF1):c.6663_6664insGGAAA (p.Ser2222Glyfs) rs1555534950
NM_000267.3(NF1):c.668G>A (p.Trp223Ter)
NM_000267.3(NF1):c.669G>A (p.Trp223Ter) rs1057517967
NM_000267.3(NF1):c.6789_6792delTTAC (p.Tyr2264Thrfs) rs1555535032
NM_000267.3(NF1):c.6791dupA (p.Tyr2264Terfs) rs876657715
NM_000267.3(NF1):c.6792C>G (p.Tyr2264Ter) rs772295894
NM_000267.3(NF1):c.6792delC (p.Tyr2264Terfs) rs1555535042
NM_000267.3(NF1):c.6798_6801dup (p.Val2268Serfs)
NM_000267.3(NF1):c.6801A>G (p.Gln2267=) rs1064794756
NM_000267.3(NF1):c.681T>A (p.Tyr227Ter)
NM_000267.3(NF1):c.6952G>T (p.Glu2318Ter) rs1060500359
NM_000267.3(NF1):c.6971_6978delTAGATAGT (p.Leu2324Serfs) rs1555535192
NM_000267.3(NF1):c.6999+1G>A rs863224492
NM_000267.3(NF1):c.6999+1_6999+5delGTAAG
NM_000267.3(NF1):c.7044G>A (p.Trp2348Ter) rs1060500286
NM_000267.3(NF1):c.7096_7101delAACTTT (p.Asn2366_Phe2367del) rs864622639
NM_000267.3(NF1):c.7125delA (p.Tyr2377Thrfs)
NM_000267.3(NF1):c.7127-2A>G rs772348111
NM_000267.3(NF1):c.7175T>A (p.Leu2392Ter) rs775181940
NM_000267.3(NF1):c.7202_7205delAACA (p.Lys2401Thrfs)
NM_000267.3(NF1):c.7206_7207delCA (p.His2402Glnfs) rs878853913
NM_000267.3(NF1):c.7251C>G (p.Tyr2417Ter) rs1060500385
NM_000267.3(NF1):c.7257delA (p.Ala2420Leufs) rs1060500300
NM_000267.3(NF1):c.7267dupA (p.Thr2423Asnfs) rs1064794278
NM_000267.3(NF1):c.730+1G>C rs1060500274
NM_000267.3(NF1):c.731-2A>T rs1555608924
NM_000267.3(NF1):c.7310delG (p.Arg2437Lysfs) rs1060500335
NM_000267.3(NF1):c.7365T>A (p.Tyr2455Ter) rs181397225
NM_000267.3(NF1):c.7419G>A (p.Trp2473Ter) rs863224493
NM_000267.3(NF1):c.7433delG (p.Gly2478Valfs) rs1555536352
NM_000267.3(NF1):c.750delT (p.Phe250Leufs)
NM_000267.3(NF1):c.7518delG (p.Gln2507Asnfs) rs878853917
NM_000267.3(NF1):c.7528C>T (p.Gln2510Ter) rs1555536372
NM_000267.3(NF1):c.7544delA (p.Lys2515Serfs) rs1060500327
NM_000267.3(NF1):c.7599_7601delTAAinsAG (p.Lys2534Glufs)
NM_000267.3(NF1):c.7638delC (p.Met2548Terfs) rs1060500295
NM_000267.3(NF1):c.7727C>A (p.Ser2576Ter)
NM_000267.3(NF1):c.7734dupT (p.Glu2579Terfs) rs863224837
NM_000267.3(NF1):c.7857T>G (p.Tyr2619Ter) rs1060500333
NM_000267.3(NF1):c.7858delG (p.Glu2620Asnfs)
NM_000267.3(NF1):c.7863C>G (p.Tyr2621Ter)
NM_000267.3(NF1):c.7868dupC (p.Glu2624Argfs) rs878853918
NM_000267.3(NF1):c.7926dup (p.Lys2643Terfs) rs1555536882
NM_000267.3(NF1):c.7954C>T (p.Gln2652Ter)
NM_000267.3(NF1):c.7970delT (p.Leu2657Terfs)
NM_000267.3(NF1):c.7996_7997delAG (p.Ser2666Cysfs) rs1060500387
NM_000267.3(NF1):c.79C>T (p.Gln27Ter) rs1060500363
NM_000267.3(NF1):c.8003delT (p.Val2668Glyfs) rs1555536923
NM_000267.3(NF1):c.801G>A (p.Trp267Ter) rs1064794273
NM_000267.3(NF1):c.8049_8050delAA (p.Ser2684Phefs) rs1555536947
NM_000267.3(NF1):c.882_885delGAAT (p.Met294Ilefs)
NM_000267.3(NF1):c.889-2A>G rs878853922
NM_000267.3(NF1):c.889-2delA
NM_000267.3(NF1):c.908delT (p.Leu303Hisfs) rs1555610848
NM_000267.3(NF1):c.909_910delACinsTT (p.Arg304Ter) rs1555610854
NM_000267.3(NF1):c.91_92delCA (p.His31Tyrfs)
NM_000267.3(NF1):c.920_921delTTinsA (p.Leu307Glnfs) rs1555610860
NM_000267.3(NF1):c.924_927delTGGC (p.Gly309Metfs) rs1060500301
NM_000267.3(NF1):c.952delG (p.Glu318Lysfs) rs1555610881
NM_000267.3(NF1):c.983_984delGT (p.Cys328Terfs) rs1555610893
NM_000267.3(NF1):c.988_995del (p.Ala330Leufs)
NM_000267.3(NF1):c.996_999delTTAC (p.Tyr333Serfs) rs1555610900
NM_000267.3(NF1):c.997delT (p.Tyr333Thrfs)
NM_000267.3(NF1):c.99delA (p.Val34Serfs) rs1060500320
NM_001042492.2(NF1):c.1218delT (p.His407Thrfs) rs1131691106
NM_001042492.2(NF1):c.1318C>T (p.Arg440Ter) rs778405030
NM_001042492.2(NF1):c.1423dup (p.Leu475Profs) rs1555612274
NM_001042492.2(NF1):c.1541_1542delAG (p.Gln514Argfs) rs267606600
NM_001042492.2(NF1):c.1714delG (p.Glu572Argfs) rs876660135
NM_001042492.2(NF1):c.1721+1G>T rs1131691096
NM_001042492.2(NF1):c.1748A>G (p.Lys583Arg) rs199474760
NM_001042492.2(NF1):c.1756_1759delACTA (p.Thr586Valfs) rs786202782
NM_001042492.2(NF1):c.181dup (p.Ile61Asnfs) rs1555604935
NM_001042492.2(NF1):c.1885G>A (p.Gly629Arg) rs199474738
NM_001042492.2(NF1):c.2033delC (p.Pro678Argfs) rs587781807
NM_001042492.2(NF1):c.2033dupC (p.Ile679Aspfs) rs587781807
NM_001042492.2(NF1):c.2252-2A>G rs1131691105
NM_001042492.2(NF1):c.2339C>A (p.Thr780Lys) rs199474746
NM_001042492.2(NF1):c.2530C>T (p.Leu844Phe) rs199474785
NM_001042492.2(NF1):c.2540T>C (p.Leu847Pro) rs199474747
NM_001042492.2(NF1):c.2543G>A (p.Gly848Glu) rs199474748
NM_001042492.2(NF1):c.2709G>A (p.Val903=) rs771820789
NM_001042492.2(NF1):c.2710dup (p.Cys904Leufs) rs1555614310
NM_001042492.2(NF1):c.2866dup (p.Thr956Asnfs) rs1555614418
NM_001042492.2(NF1):c.2969_2970dup (p.Met991Glnfs) rs1555614458
NM_001042492.2(NF1):c.2990+1G>A rs1135402836
NM_001042492.2(NF1):c.3457_3460delCTCA (p.Leu1153Metfs) rs1321848637
NM_001042492.2(NF1):c.3484dup (p.Met1162Asnfs) rs1555614977
NM_001042492.2(NF1):c.3525_3526delAA (p.Arg1176Serfs) rs1131691092
NM_001042492.2(NF1):c.3610C>G (p.Arg1204Gly) rs199474732
NM_001042492.2(NF1):c.3610C>T (p.Arg1204Trp) rs199474732
NM_001042492.2(NF1):c.3721C>T (p.Arg1241Ter) rs137854562
NM_001042492.2(NF1):c.3827G>A (p.Arg1276Gln) rs137854556
NM_001042492.2(NF1):c.3871-2A>G rs1131691077
NM_001042492.2(NF1):c.4617_4630dup (p.Ala1544Glyfs)
NM_001042492.2(NF1):c.4703dup (p.Phe1569Valfs)
NM_001042492.2(NF1):c.4729C>T (p.Gln1577Ter) rs797044942
NM_001042492.2(NF1):c.4743dup (p.Glu1582Argfs)
NM_001042492.2(NF1):c.4873_4874dup (p.His1626Thrfs) rs1555533284
NM_001042492.2(NF1):c.499_502delTGTT (p.Cys167Glnfs) rs786201874
NM_001042492.2(NF1):c.5039_5041delATAinsT (p.Tyr1680Leufs)
NM_001042492.2(NF1):c.5269-1G>A rs876660141
NM_001042492.2(NF1):c.5376_5379dup (p.Val1794Profs)
NM_001042492.2(NF1):c.541C>T (p.Gln181Ter) rs753529924
NM_001042492.2(NF1):c.5427dup (p.Leu1810Alafs)
NM_001042492.2(NF1):c.5609G>A (p.Arg1870Gln) rs786202112
NM_001042492.2(NF1):c.5645dup (p.Cys1882Trpfs)
NM_001042492.2(NF1):c.5730dupT (p.Ile1911Tyrfs) rs876660212
NM_001042492.2(NF1):c.5839G>T (p.Glu1947Ter) rs587782088
NM_001042492.2(NF1):c.6462dup (p.Glu2155Argfs) rs1135402888
NM_001042492.2(NF1):c.6772C>T (p.Arg2258Ter) rs876658541
NM_001042492.2(NF1):c.6855C>A (p.Tyr2285Ter) rs772295894
NM_001042492.2(NF1):c.6900dup (p.Leu2301Ilefs) rs1555535050
NM_001042492.2(NF1):c.6904C>T (p.Gln2302Ter) rs1057518807
NM_001042492.2(NF1):c.7348C>T (p.Arg2450Ter) rs786202457
NM_001042492.2(NF1):c.7392delT (p.Asp2465Ilefs) rs786202180
NM_001042492.2(NF1):c.7409dup (p.Asn2470Lysfs) rs1135402906
NM_001042492.2(NF1):c.7549C>T (p.Arg2517Ter) rs866445127
NM_001042492.2(NF1):c.7745dup (p.Arg2583Glufs) rs1555536683
NM_001042492.2(NF1):c.7747_7748delAG (p.Arg2583Aspfs) rs1135402907
NM_001042492.2(NF1):c.7909C>T (p.Arg2637Ter) rs786201367
NM_001042492.2(NF1):c.7956dup (p.Val2653Serfs) rs1555536765
NM_001042492.2(NF1):c.910C>T (p.Arg304Ter) rs786203950

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