ClinVar Miner

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

Minimum submission review status: Collection method:
Minimum conflict level:
Gene type:
ClinVar version:
Total variants: 552
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HGVS dbSNP gnomAD frequency
NM_001042492.3(NF1):c.4330A>G (p.Lys1444Glu) rs137854550 0.00002
NM_001042492.3(NF1):c.1260+1G>A rs267606603 0.00001
NM_001042492.3(NF1):c.1318C>T (p.Arg440Ter) rs778405030 0.00001
NM_001042492.3(NF1):c.1466A>G (p.Tyr489Cys) rs137854557 0.00001
NM_001042492.3(NF1):c.1541_1542del (p.Gln514fs) rs267606600 0.00001
NM_001042492.3(NF1):c.1721+1G>A rs1131691096 0.00001
NM_001042492.3(NF1):c.2041C>T (p.Arg681Ter) rs768638173 0.00001
NM_001042492.3(NF1):c.2350T>C (p.Trp784Arg) rs199474730 0.00001
NM_001042492.3(NF1):c.2510G>A (p.Trp837Ter) rs1348129244 0.00001
NM_001042492.3(NF1):c.3610C>T (p.Arg1204Trp) rs199474732 0.00001
NM_001042492.3(NF1):c.3709-2A>G rs1597722374 0.00001
NM_001042492.3(NF1):c.3827G>A (p.Arg1276Gln) rs137854556 0.00001
NM_001042492.3(NF1):c.4600C>T (p.Arg1534Ter) rs760703505 0.00001
NM_001042492.3(NF1):c.5488C>T (p.Arg1830Cys) rs797045139 0.00001
NM_001042492.3(NF1):c.574C>T (p.Arg192Ter) rs397514641 0.00001
NM_001042492.3(NF1):c.5812+332A>G rs863224491 0.00001
NM_001042492.3(NF1):c.6674G>A (p.Trp2225Ter) rs1193716348 0.00001
NM_001042492.3(NF1):c.6704+1G>T rs1060500376 0.00001
NM_001042492.3(NF1):c.6855C>G (p.Tyr2285Ter) rs772295894 0.00001
GRCh37/hg19 17q11.2(chr17:29422328-29422387)x1
GRCh37/hg19 17q11.2(chr17:29490394-29509683)x3
GRCh37/hg19 17q11.2(chr17:29679275-29679432)x1
NM_000267.3(NF1):c.206_207delGA rs1060500321
NM_000267.3(NF1):c.5206delG rs1555533549
NM_000267.3(NF1):c.6085del
NM_000267.3(NF1):c.6791dup (p.Tyr2264Ter) rs876657715
NM_001042492.3(NF1):c.1008G>A (p.Trp336Ter) rs2143873786
NM_001042492.3(NF1):c.1019_1020del (p.Ser340fs) rs1555610903
NM_001042492.3(NF1):c.1020dup (p.Val341fs) rs1555610905
NM_001042492.3(NF1):c.1021_1022del (p.Val341fs) rs2066509100
NM_001042492.3(NF1):c.1023dup (p.Ile342fs) rs2143874110
NM_001042492.3(NF1):c.1039C>T (p.Gln347Ter) rs1555610910
NM_001042492.3(NF1):c.1062G>C (p.Lys354Asn) rs1131691118
NM_001042492.3(NF1):c.1063-1G>A rs1555610955
NM_001042492.3(NF1):c.1063-1G>C rs1555610955
NM_001042492.3(NF1):c.1063-2A>C
NM_001042492.3(NF1):c.1063-2A>G rs1060500358
NM_001042492.3(NF1):c.1079dup (p.Ser361fs) rs2143878590
NM_001042492.3(NF1):c.1091del (p.Phe364fs) rs2066519253
NM_001042492.3(NF1):c.1094C>G (p.Ser365Ter) rs864622107
NM_001042492.3(NF1):c.1105C>T (p.Gln369Ter)
NM_001042492.3(NF1):c.1174C>T (p.Gln392Ter) rs1597682137
NM_001042492.3(NF1):c.1182dup (p.Lys395Ter) rs1597682159
NM_001042492.3(NF1):c.1185+1G>A rs864622161
NM_001042492.3(NF1):c.1186-2A>G rs1373365576
NM_001042492.3(NF1):c.1198C>T (p.Gln400Ter) rs1597682751
NM_001042492.3(NF1):c.121G>T (p.Glu41Ter) rs1567814497
NM_001042492.3(NF1):c.1238C>G (p.Ser413Ter) rs1241533665
NM_001042492.3(NF1):c.1243dup (p.His415fs) rs1085307728
NM_001042492.3(NF1):c.1246C>T (p.Arg416Ter) rs764079291
NM_001042492.3(NF1):c.1260+1604A>G rs1131691067
NM_001042492.3(NF1):c.1260+1G>C rs267606603
NM_001042492.3(NF1):c.1260+2T>G rs1555611110
NM_001042492.3(NF1):c.1261-1G>T rs2066618707
NM_001042492.3(NF1):c.1261-2A>G rs2066618684
NM_001042492.3(NF1):c.1278G>A (p.Trp426Ter) rs1131691085
NM_001042492.3(NF1):c.1299T>G (p.Tyr433Ter) rs876660099
NM_001042492.3(NF1):c.1362_1364del (p.Cys454_Gly455delinsTer) rs2143915068
NM_001042492.3(NF1):c.1373del (p.Pro458fs) rs2143915236
NM_001042492.3(NF1):c.1381C>T (p.Arg461Ter) rs878853865
NM_001042492.3(NF1):c.1393-1G>A rs1131691131
NM_001042492.3(NF1):c.1393-2A>G rs1555612266
NM_001042492.3(NF1):c.1399dup (p.Thr467fs) rs778963145
NM_001042492.3(NF1):c.1400del (p.Thr467fs) rs1135402808
NM_001042492.3(NF1):c.1438A>T (p.Lys480Ter) rs2143959211
NM_001042492.3(NF1):c.1440del (p.Lys480fs) rs2066786100
NM_001042492.3(NF1):c.1453G>T (p.Glu485Ter) rs1131691610
NM_001042492.3(NF1):c.1467T>A (p.Tyr489Ter) rs1567841799
NM_001042492.3(NF1):c.1467T>G (p.Tyr489Ter)
NM_001042492.3(NF1):c.1467dup (p.Lys490Ter)
NM_001042492.3(NF1):c.147del (p.Lys48_Tyr49insTer) rs1597626031
NM_001042492.3(NF1):c.1527+1159C>T rs878853868
NM_001042492.3(NF1):c.1527+1G>A rs1060500331
NM_001042492.3(NF1):c.1527+1G>T rs1060500331
NM_001042492.3(NF1):c.1527+2T>G rs1064796700
NM_001042492.3(NF1):c.1527+4_1527+7del rs1555612294
NM_001042492.3(NF1):c.1540C>T (p.Gln514Ter) rs1316926587
NM_001042492.3(NF1):c.1541del (p.Gln514fs) rs1555612815
NM_001042492.3(NF1):c.1572del (p.Glu524fs) rs1085307461
NM_001042492.3(NF1):c.1591C>T (p.Gln531Ter) rs1057518134
NM_001042492.3(NF1):c.1601del (p.Pro534fs) rs2143986751
NM_001042492.3(NF1):c.1603C>T (p.Gln535Ter) rs1567843917
NM_001042492.3(NF1):c.1608dup (p.His537fs) rs1597703530
NM_001042492.3(NF1):c.1642-1G>T rs1555613185
NM_001042492.3(NF1):c.1642-3C>G rs1597706610
NM_001042492.3(NF1):c.1642-449A>G rs863224655
NM_001042492.3(NF1):c.1660C>T (p.Gln554Ter) rs953440640
NM_001042492.3(NF1):c.1672del (p.Ile558fs) rs1567845057
NM_001042492.3(NF1):c.1682_1688dup (p.Asp564fs) rs2144004346
NM_001042492.3(NF1):c.1711del (p.Trp571fs) rs1597706737
NM_001042492.3(NF1):c.1717A>G (p.Ile573Val) rs1597706766
NM_001042492.3(NF1):c.1721+1G>C rs1131691096
NM_001042492.3(NF1):c.1721+3A>G rs1057518904
NM_001042492.3(NF1):c.1721G>A (p.Ser574Asn) rs1555613206
NM_001042492.3(NF1):c.1722-1G>A rs1567845818
NM_001042492.3(NF1):c.1722-2A>G rs763983337
NM_001042492.3(NF1):c.1726C>T (p.Gln576Ter) rs1060500278
NM_001042492.3(NF1):c.1742del (p.Ile581fs) rs2144015861
NM_001042492.3(NF1):c.1748A>G (p.Lys583Arg) rs199474760
NM_001042492.3(NF1):c.1754T>G (p.Leu585Ter) rs775670722
NM_001042492.3(NF1):c.1756_1759del (p.Thr586fs) rs786202782
NM_001042492.3(NF1):c.1765C>T (p.Gln589Ter) rs1282299543
NM_001042492.3(NF1):c.1785_1786del (p.Glu595fs) rs1567845900
NM_001042492.3(NF1):c.1796G>A (p.Trp599Ter) rs1131691130
NM_001042492.3(NF1):c.1797G>A (p.Trp599Ter) rs1567845906
NM_001042492.3(NF1):c.1833del (p.Asn614fs)
NM_001042492.3(NF1):c.1845+1G>A rs1567845945
NM_001042492.3(NF1):c.1845+1G>T
NM_001042492.3(NF1):c.1845+2T>G
NM_001042492.3(NF1):c.1845G>A (p.Lys615=) rs1131691080
NM_001042492.3(NF1):c.1863del (p.Cys622fs) rs1131691777
NM_001042492.3(NF1):c.1866T>A (p.Cys622Ter) rs753245823
NM_001042492.3(NF1):c.1882del (p.Tyr628fs)
NM_001042492.3(NF1):c.1885G>A (p.Gly629Arg) rs199474738
NM_001042492.3(NF1):c.1929dup (p.Ser644fs) rs2066991676
NM_001042492.3(NF1):c.1973_1974del (p.Leu658fs) rs1064796843
NM_001042492.3(NF1):c.2002-1G>A rs1555613743
NM_001042492.3(NF1):c.2002-2A>C rs1555613741
NM_001042492.3(NF1):c.2002-2_2002-1del rs2151425505
NM_001042492.3(NF1):c.200del (p.Asn67fs) rs1555604942
NM_001042492.3(NF1):c.2033_2034delinsA (p.Pro678fs) rs2151425601
NM_001042492.3(NF1):c.2033del (p.Pro678fs) rs587781807
NM_001042492.3(NF1):c.2033dup (p.Ile679fs) rs587781807
NM_001042492.3(NF1):c.2034delinsCA (p.Ile679fs) rs1064796331
NM_001042492.3(NF1):c.204+1G>A rs886039548
NM_001042492.3(NF1):c.204+1G>T rs886039548
NM_001042492.3(NF1):c.204+2T>G rs1597626161
NM_001042492.3(NF1):c.205-1G>C rs1555605362
NM_001042492.3(NF1):c.205-2A>G rs1597629679
NM_001042492.3(NF1):c.2127T>A (p.Cys709Ter) rs2067018146
NM_001042492.3(NF1):c.2135_2136dup (p.Leu713fs) rs1555613810
NM_001042492.3(NF1):c.2142T>A (p.Cys714Ter) rs141382637
NM_001042492.3(NF1):c.2149del (p.Ala717fs) rs1567847540
NM_001042492.3(NF1):c.2163T>A (p.Cys721Ter) rs1555613816
NM_001042492.3(NF1):c.2207del (p.Asn736fs) rs1597712699
NM_001042492.3(NF1):c.2219del (p.Glu740fs) rs2151426094
NM_001042492.3(NF1):c.2251+2T>C
NM_001042492.3(NF1):c.2251G>A (p.Gly751Arg) rs1567847681
NM_001042492.3(NF1):c.2251G>C (p.Gly751Arg) rs1567847681
NM_001042492.3(NF1):c.2268del (p.Arg758fs) rs2151426865
NM_001042492.3(NF1):c.2271_2272del (p.Arg758fs) rs2067030828
NM_001042492.3(NF1):c.2288T>C (p.Leu763Pro) rs199474762
NM_001042492.3(NF1):c.2293del (p.Arg765fs) rs1597713360
NM_001042492.3(NF1):c.2325+1G>A rs1555613933
NM_001042492.3(NF1):c.2325+2T>C rs1567847972
NM_001042492.3(NF1):c.2325+3A>G rs1057517848
NM_001042492.3(NF1):c.2325G>C (p.Glu775Asp) rs1555613932
NM_001042492.3(NF1):c.2329T>C (p.Trp777Arg) rs876658853
NM_001042492.3(NF1):c.2331_2365del (p.Trp777_Lys789delinsTer) rs2067037428
NM_001042492.3(NF1):c.2339C>A (p.Thr780Lys) rs199474746
NM_001042492.3(NF1):c.233del (p.Asn78fs) rs1438566555
NM_001042492.3(NF1):c.236T>A (p.Leu79Ter) rs1597629765
NM_001042492.3(NF1):c.2409+1G>A rs1555614022
NM_001042492.3(NF1):c.2409+1G>T rs1555614022
NM_001042492.3(NF1):c.2409+2T>G rs876660826
NM_001042492.3(NF1):c.2410-12T>G rs876657932
NM_001042492.3(NF1):c.2410-16A>G rs1567848704
NM_001042492.3(NF1):c.2410-1G>C rs1057518792
NM_001042492.3(NF1):c.2440A>T (p.Lys814Ter) rs1555614184
NM_001042492.3(NF1):c.2446C>T (p.Arg816Ter) rs886041347
NM_001042492.3(NF1):c.244_247del (p.Ser82_Gln83insTer) rs771115661
NM_001042492.3(NF1):c.2452del (p.Ser818fs) rs2067065066
NM_001042492.3(NF1):c.246_248delinsG (p.Gln83fs) rs2143646085
NM_001042492.3(NF1):c.247C>T (p.Gln83Ter) rs746824139
NM_001042492.3(NF1):c.2483del (p.Leu828fs) rs1131691069
NM_001042492.3(NF1):c.249del (p.Gln83fs)
NM_001042492.3(NF1):c.2503C>T (p.Gln835Ter) rs1555614207
NM_001042492.3(NF1):c.2511G>A (p.Trp837Ter) rs1555614211
NM_001042492.3(NF1):c.2530C>T (p.Leu844Phe) rs199474785
NM_001042492.3(NF1):c.2531T>C (p.Leu844Pro) rs137854566
NM_001042492.3(NF1):c.2537C>A (p.Ala846Asp) rs1555614229
NM_001042492.3(NF1):c.2540T>C (p.Leu847Pro) rs199474747
NM_001042492.3(NF1):c.2545G>T (p.Gly849Ter) rs1064794275
NM_001042492.3(NF1):c.2546del (p.Gly849fs) rs1567848878
NM_001042492.3(NF1):c.2547dup (p.Val850fs)
NM_001042492.3(NF1):c.2557C>T (p.Gln853Ter) rs2151429126
NM_001042492.3(NF1):c.2560C>T (p.Gln854Ter) rs1555614261
NM_001042492.3(NF1):c.2617C>G (p.Arg873Gly) rs199474739
NM_001042492.3(NF1):c.2619dup (p.Lys874Ter) rs1555614284
NM_001042492.3(NF1):c.2665dup (p.Thr889fs) rs886041348
NM_001042492.3(NF1):c.2674del (p.Ser892fs) rs1555614296
NM_001042492.3(NF1):c.2709G>A (p.Val903=) rs771820789
NM_001042492.3(NF1):c.2815_2816insG (p.Asn939fs) rs2151429753
NM_001042492.3(NF1):c.2835del (p.Phe945fs) rs1567849208
NM_001042492.3(NF1):c.2835dup (p.Asp946Ter) rs1567849208
NM_001042492.3(NF1):c.2842C>T (p.Gln948Ter) rs1567849237
NM_001042492.3(NF1):c.2848C>T (p.Gln950Ter) rs1060500357
NM_001042492.3(NF1):c.2850G>A (p.Gln950=) rs863224446
NM_001042492.3(NF1):c.2875C>T (p.Gln959Ter) rs2151430537
NM_001042492.3(NF1):c.288+1G>T rs1567816131
NM_001042492.3(NF1):c.288+4A>G rs781459468
NM_001042492.3(NF1):c.2887C>T (p.Gln963Ter) rs876660444
NM_001042492.3(NF1):c.2890del (p.Thr964fs) rs1555614437
NM_001042492.3(NF1):c.2892dup (p.Ile965fs) rs2067083389
NM_001042492.3(NF1):c.289C>T (p.Gln97Ter) rs1597635615
NM_001042492.3(NF1):c.2953C>T (p.Gln985Ter) rs1555614455
NM_001042492.3(NF1):c.2970_2971del (p.Met991fs) rs1597716432
NM_001042492.3(NF1):c.2970_2972del (p.Met992del) rs267606606
NM_001042492.3(NF1):c.2990+1G>C rs1135402836
NM_001042492.3(NF1):c.2990+1G>T rs1135402836
NM_001042492.3(NF1):c.2991-1G>A rs1060500273
NM_001042492.3(NF1):c.2991-1G>C rs1060500273
NM_001042492.3(NF1):c.2991-2A>C rs1555614495
NM_001042492.3(NF1):c.2991-2A>G rs1555614495
NM_001042492.3(NF1):c.2994T>A (p.Tyr998Ter)
NM_001042492.3(NF1):c.3007_3008delinsTA (p.Gly1003Ter) rs1597716834
NM_001042492.3(NF1):c.3028C>T (p.Gln1010Ter) rs2151431557
NM_001042492.3(NF1):c.3037del (p.Thr1013fs) rs1135402838
NM_001042492.3(NF1):c.3088_3089dup (p.Phe1031fs) rs2067092561
NM_001042492.3(NF1):c.3106A>T (p.Lys1036Ter) rs1567849891
NM_001042492.3(NF1):c.3113+1G>A rs267606599
NM_001042492.3(NF1):c.3113+1G>C rs267606599
NM_001042492.3(NF1):c.3113+2T>C rs876658997
NM_001042492.3(NF1):c.3113+5G>C rs1555614549
NM_001042492.3(NF1):c.311T>G (p.Leu104Ter) rs1057521097
NM_001042492.3(NF1):c.319del (p.Thr107fs) rs1131691116
NM_001042492.3(NF1):c.3222_3223del (p.Glu1074fs) rs2067122558
NM_001042492.3(NF1):c.3256C>T (p.Gln1086Ter) rs2067123355
NM_001042492.3(NF1):c.3261dup (p.Glu1088Ter) rs1555614851
NM_001042492.3(NF1):c.3315-10_3335del rs2151434411
NM_001042492.3(NF1):c.3347_3350del (p.Asp1116fs) rs2067134697
NM_001042492.3(NF1):c.3376C>T (p.Gln1126Ter) rs1555614947
NM_001042492.3(NF1):c.338del (p.Leu113fs) rs1597635740
NM_001042492.3(NF1):c.339del (p.Leu113fs) rs1597635745
NM_001042492.3(NF1):c.3445A>G (p.Met1149Val) rs1187097568
NM_001042492.3(NF1):c.3447G>T (p.Met1149Ile) rs1064794277
NM_001042492.3(NF1):c.3449C>G (p.Ser1150Ter) rs1555614972
NM_001042492.3(NF1):c.3456dup (p.Leu1153fs) rs1430634618
NM_001042492.3(NF1):c.3457_3460del (p.Leu1153fs) rs1321848637
NM_001042492.3(NF1):c.3496+1G>A rs2067138719
NM_001042492.3(NF1):c.3496+1G>C rs2067138719
NM_001042492.3(NF1):c.3520C>T (p.Gln1174Ter) rs868450405
NM_001042492.3(NF1):c.3525_3526del (p.Arg1176fs) rs1131691092
NM_001042492.3(NF1):c.3544G>T (p.Val1182Phe) rs1555615027
NM_001042492.3(NF1):c.3557_3561del (p.Ile1186fs) rs2151435421
NM_001042492.3(NF1):c.3563A>C (p.Gln1188Pro) rs758419553
NM_001042492.3(NF1):c.3610C>G (p.Arg1204Gly) rs199474732
NM_001042492.3(NF1):c.3611G>T (p.Arg1204Leu) rs1057521848
NM_001042492.3(NF1):c.3639_3641del (p.Met1215del) rs1060500276
NM_001042492.3(NF1):c.3652C>T (p.Gln1218Ter)
NM_001042492.3(NF1):c.3665del (p.Pro1222fs) rs867391752
NM_001042492.3(NF1):c.3677dup (p.Leu1227fs) rs1567851501
NM_001042492.3(NF1):c.3693del (p.Pro1232fs)
NM_001042492.3(NF1):c.3703C>T (p.Gln1235Ter) rs1555615109
NM_001042492.3(NF1):c.3708+2T>C
NM_001042492.3(NF1):c.3708G>A (p.Trp1236Ter) rs2067145586
NM_001042492.3(NF1):c.3721C>T (p.Arg1241Ter) rs137854562
NM_001042492.3(NF1):c.372_373insTT (p.Arg125fs) rs1555606080
NM_001042492.3(NF1):c.3737dup (p.Phe1247fs) rs1555615445
NM_001042492.3(NF1):c.3739_3742del (p.Phe1247fs) rs1064794276
NM_001042492.3(NF1):c.3755delinsAG (p.Leu1252Ter)
NM_001042492.3(NF1):c.3763C>T (p.Gln1255Ter) rs1060500308
NM_001042492.3(NF1):c.3772T>C (p.Trp1258Arg) rs1597722508
NM_001042492.3(NF1):c.3810_3820del (p.Met1271fs) rs2067188114
NM_001042492.3(NF1):c.3814C>T (p.Gln1272Ter) rs2067188361
NM_001042492.3(NF1):c.3820_3823del (p.Leu1274fs)
NM_001042492.3(NF1):c.3822_3823del (p.Phe1275fs) rs1555615472
NM_001042492.3(NF1):c.3824del (p.Phe1275fs)
NM_001042492.3(NF1):c.3826C>G (p.Arg1276Gly) rs199474742
NM_001042492.3(NF1):c.3826C>T (p.Arg1276Ter) rs199474742
NM_001042492.3(NF1):c.3827G>C (p.Arg1276Pro) rs137854556
NM_001042492.3(NF1):c.3850del (p.Lys1283_Ile1284insTer)
NM_001042492.3(NF1):c.3870+1G>A rs1131691075
NM_001042492.3(NF1):c.3888T>G (p.Tyr1296Ter) rs2151438526
NM_001042492.3(NF1):c.3892C>T (p.Gln1298Ter) rs2067193761
NM_001042492.3(NF1):c.3911T>A (p.Leu1304Ter) rs761512189
NM_001042492.3(NF1):c.3916C>T (p.Arg1306Ter) rs376576925
NM_001042492.3(NF1):c.3942G>A (p.Trp1314Ter) rs2067194816
NM_001042492.3(NF1):c.3974+1G>A rs1567852849
NM_001042492.3(NF1):c.3974+1G>C rs1567852849
NM_001042492.3(NF1):c.3975-2A>G rs864622431
NM_001042492.3(NF1):c.4000G>T (p.Glu1334Ter) rs878853892
NM_001042492.3(NF1):c.4016T>G (p.Leu1339Arg) rs1567858306
NM_001042492.3(NF1):c.4021C>T (p.Gln1341Ter) rs137854559
NM_001042492.3(NF1):c.4076del (p.Pro1359fs) rs1135402852
NM_001042492.3(NF1):c.4076dup (p.Gln1360fs) rs1135402852
NM_001042492.3(NF1):c.4078C>T (p.Gln1360Ter) rs1555617368
NM_001042492.3(NF1):c.4084C>T (p.Arg1362Ter) rs137854560
NM_001042492.3(NF1):c.4109del (p.Gln1370fs) rs2151451681
NM_001042492.3(NF1):c.4110+1G>C rs1555617383
NM_001042492.3(NF1):c.422_437del (p.Val141fs) rs1555606098
NM_001042492.3(NF1):c.4234A>G (p.Arg1412Gly) rs1555618515
NM_001042492.3(NF1):c.4260_4261del (p.Pro1421fs) rs1555618536
NM_001042492.3(NF1):c.4299dup (p.Arg1434Ter)
NM_001042492.3(NF1):c.4306G>T (p.Glu1436Ter) rs876660428
NM_001042492.3(NF1):c.4330A>C (p.Lys1444Gln) rs137854550
NM_001042492.3(NF1):c.4332+1G>T rs1555618572
NM_001042492.3(NF1):c.4332+2T>G
NM_001042492.3(NF1):c.4333-2A>G rs1555618634
NM_001042492.3(NF1):c.4333-2del rs886041630
NM_001042492.3(NF1):c.4338del (p.Gln1447fs) rs2067635690
NM_001042492.3(NF1):c.4339C>G (p.Gln1447Glu) rs1135402857
NM_001042492.3(NF1):c.4369A>C (p.Lys1457Gln) rs878853893
NM_001042492.3(NF1):c.4369A>G (p.Lys1457Glu) rs878853893
NM_001042492.3(NF1):c.4371del (p.Glu1458fs)
NM_001042492.3(NF1):c.4372G>T (p.Glu1458Ter) rs1135402858
NM_001042492.3(NF1):c.4372GAA[1] (p.Glu1459del) rs267606607
NM_001042492.3(NF1):c.4380dup (p.Met1461fs) rs886041435
NM_001042492.3(NF1):c.4405A>T (p.Lys1469Ter) rs1567862353
NM_001042492.3(NF1):c.4430+1G>A rs773151680
NM_001042492.3(NF1):c.4430+2T>G rs1555618693
NM_001042492.3(NF1):c.4436dup (p.Leu1480fs) rs1555618803
NM_001042492.3(NF1):c.4444dup (p.Ile1482fs) rs2151464529
NM_001042492.3(NF1):c.4465A>G (p.Ser1489Gly) rs199474743
NM_001042492.3(NF1):c.4535G>A (p.Trp1512Ter) rs1267947462
NM_001042492.3(NF1):c.4536G>A (p.Trp1512Ter) rs878853897
NM_001042492.3(NF1):c.4556G>A (p.Gly1519Glu) rs1567863004
NM_001042492.3(NF1):c.4567dup (p.Ser1523fs) rs2067665969
NM_001042492.3(NF1):c.4577+1G>A rs1279529138
NM_001042492.3(NF1):c.4578-19A>G rs1555618994
NM_001042492.3(NF1):c.4597A>T (p.Arg1533Ter) rs1064796633
NM_001042492.3(NF1):c.4608del (p.Phe1536fs) rs2151466252
NM_001042492.3(NF1):c.4635C>G (p.Tyr1545Ter) rs754023358
NM_001042492.3(NF1):c.4640del (p.Gly1547fs) rs2067690686
NM_001042492.3(NF1):c.4669dup (p.Thr1557fs) rs1555619033
NM_001042492.3(NF1):c.4676G>A (p.Trp1559Ter) rs2067691658
NM_001042492.3(NF1):c.4677G>A (p.Trp1559Ter) rs137854555
NM_001042492.3(NF1):c.4684del (p.Asn1563fs) rs1555619041
NM_001042492.3(NF1):c.4700C>A (p.Ser1567Ter) rs1555619051
NM_001042492.3(NF1):c.4700C>G (p.Ser1567Ter) rs1555619051
NM_001042492.3(NF1):c.4725-1G>A rs1555619391
NM_001042492.3(NF1):c.479+1G>A rs1555606137
NM_001042492.3(NF1):c.479+1G>T rs1555606137
NM_001042492.3(NF1):c.479+5G>A rs1567818033
NM_001042492.3(NF1):c.4798A>T (p.Lys1600Ter) rs1567865056
NM_001042492.3(NF1):c.480-2A>G rs1567820688
NM_001042492.3(NF1):c.4819del (p.Tyr1607fs) rs876658492
NM_001042492.3(NF1):c.4824T>A (p.Tyr1608Ter) rs1567865089
NM_001042492.3(NF1):c.4836-1G>A rs1057518326
NM_001042492.3(NF1):c.4836-2A>C rs1555533265
NM_001042492.3(NF1):c.4836-2A>T rs1555533265
NM_001042492.3(NF1):c.484C>T (p.Gln162Ter) rs1555607073
NM_001042492.3(NF1):c.487G>T (p.Glu163Ter) rs2065903080
NM_001042492.3(NF1):c.491T>G (p.Leu164Ter)
NM_001042492.3(NF1):c.496_497del (p.Val166fs) rs1135402788
NM_001042492.3(NF1):c.4973_4974del (p.Phe1658fs) rs2069329470
NM_001042492.3(NF1):c.4977_4980del (p.Lys1661fs) rs1085307459
NM_001042492.3(NF1):c.4980dup (p.Lys1661Ter) rs2069329774
NM_001042492.3(NF1):c.4986G>A (p.Trp1662Ter) rs2151538007
NM_001042492.3(NF1):c.4998del (p.Pro1667fs) rs1135402867
NM_001042492.3(NF1):c.499_502del (p.Cys167fs) rs786201874
NM_001042492.3(NF1):c.5013C>G (p.Tyr1671Ter) rs1060500255
NM_001042492.3(NF1):c.5037_5040del (p.Tyr1680fs)
NM_001042492.3(NF1):c.503C>A (p.Ser168Ter)
NM_001042492.3(NF1):c.503C>G (p.Ser168Ter) rs1131691994
NM_001042492.3(NF1):c.5045_5046del (p.Asn1681_Cys1682insTer) rs1597829906
NM_001042492.3(NF1):c.5067C>A (p.Tyr1689Ter) rs756708811
NM_001042492.3(NF1):c.5126_5127delinsG (p.Ile1709fs)
NM_001042492.3(NF1):c.5203G>T (p.Glu1735Ter) rs2151538896
NM_001042492.3(NF1):c.5268+1G>T rs2069338793
NM_001042492.3(NF1):c.5269-1G>A rs876660141
NM_001042492.3(NF1):c.5269-2A>G rs1555533548
NM_001042492.3(NF1):c.5287C>T (p.Gln1763Ter) rs2069375606
NM_001042492.3(NF1):c.5297C>G (p.Ser1766Ter) rs1555533555
NM_001042492.3(NF1):c.5305C>T (p.Arg1769Ter) rs876657714
NM_001042492.3(NF1):c.5320_5324dup (p.Ser1776fs) rs1555533562
NM_001042492.3(NF1):c.5335del (p.Phe1778_Leu1779insTer)
NM_001042492.3(NF1):c.5356del (p.Ser1786fs)
NM_001042492.3(NF1):c.539dup (p.Leu180fs)
NM_001042492.3(NF1):c.541C>T (p.Gln181Ter) rs753529924
NM_001042492.3(NF1):c.5431_5449del (p.Thr1811fs) rs1567612488
NM_001042492.3(NF1):c.544_550del (p.Tyr182fs) rs2143707713
NM_001042492.3(NF1):c.5469dup (p.Ile1824fs) rs267606605
NM_001042492.3(NF1):c.5489G>T (p.Arg1830Leu) rs771529172
NM_001042492.3(NF1):c.5493G>A (p.Trp1831Ter) rs2069382585
NM_001042492.3(NF1):c.5503C>T (p.Gln1835Ter) rs786202177
NM_001042492.3(NF1):c.5503_5530dup (p.Lys1844fs) rs2151541577
NM_001042492.3(NF1):c.5516del (p.Ile1839fs) rs1597832304
NM_001042492.3(NF1):c.5521C>T (p.Gln1841Ter) rs786203570
NM_001042492.3(NF1):c.5529dup (p.Lys1844fs) rs1555533628
NM_001042492.3(NF1):c.5541_5547del (p.Lys1848fs) rs1064796631
NM_001042492.3(NF1):c.5606T>G (p.Leu1869Ter) rs1597832482
NM_001042492.3(NF1):c.5609G>A (p.Arg1870Gln) rs786202112
NM_001042492.3(NF1):c.5610-1G>C rs1567613569
NM_001042492.3(NF1):c.5657T>A (p.Leu1886Ter) rs1555533853
NM_001042492.3(NF1):c.5690del (p.Gly1897fs) rs2151544622
NM_001042492.3(NF1):c.569T>A (p.Leu190Ter)
NM_001042492.3(NF1):c.569T>G (p.Leu190Ter) rs1555607112
NM_001042492.3(NF1):c.5730dup (p.Ile1911fs) rs876660212
NM_001042492.3(NF1):c.5785G>T (p.Glu1929Ter) rs2069454068
NM_001042492.3(NF1):c.5789_5790del (p.Cys1930fs) rs2069454362
NM_001042492.3(NF1):c.5806_5812+1del rs2069454695
NM_001042492.3(NF1):c.5806_5812del (p.Lys1936fs) rs1597834959
NM_001042492.3(NF1):c.5813-1G>A rs1057518974
NM_001042492.3(NF1):c.5822T>A (p.Leu1941Ter) rs1555534375
NM_001042492.3(NF1):c.5830del (p.Leu1944fs) rs1555534378
NM_001042492.3(NF1):c.5839G>T (p.Glu1947Ter) rs587782088
NM_001042492.3(NF1):c.5842T>G (p.Tyr1948Asp) rs1057520575
NM_001042492.3(NF1):c.5855G>A (p.Trp1952Ter) rs1567615766
NM_001042492.3(NF1):c.5856G>A (p.Trp1952Ter) rs1555534393
NM_001042492.3(NF1):c.586+1G>A rs1555607126
NM_001042492.3(NF1):c.587-2A>G rs1057518360
NM_001042492.3(NF1):c.587-2A>T rs1057518360
NM_001042492.3(NF1):c.5880C>A (p.Cys1960Ter) rs1462287670
NM_001042492.3(NF1):c.5901del (p.Lys1967fs) rs1597840123
NM_001042492.3(NF1):c.5902C>T (p.Arg1968Ter) rs137854552
NM_001042492.3(NF1):c.5938del (p.Thr1980fs) rs1567615852
NM_001042492.3(NF1):c.5959C>T (p.Gln1987Ter) rs876659070
NM_001042492.3(NF1):c.5961_5962del (p.Gln1987fs)
NM_001042492.3(NF1):c.5967C>G (p.Tyr1989Ter) rs1567615902
NM_001042492.3(NF1):c.5985_5986del (p.Lys1995fs)
NM_001042492.3(NF1):c.5991G>A (p.Trp1997Ter) rs876660696
NM_001042492.3(NF1):c.6004C>T (p.Gln2002Ter) rs1567615941
NM_001042492.3(NF1):c.6006+1G>A rs1555534433
NM_001042492.3(NF1):c.6006+2T>G rs1258498548
NM_001042492.3(NF1):c.6006_6006+1delinsAA rs1064796077
NM_001042492.3(NF1):c.6007-5A>G rs267606604
NM_001042492.3(NF1):c.6041del (p.Phe2014fs) rs2151553250
NM_001042492.3(NF1):c.6060_6147+57del rs2151553312
NM_001042492.3(NF1):c.6062del (p.Gly2021fs) rs1057518475
NM_001042492.3(NF1):c.6088dup (p.Val2030fs) rs1555534609
NM_001042492.3(NF1):c.610del (p.Ala203_Leu204insTer)
NM_001042492.3(NF1):c.6147+1G>A rs1060500296
NM_001042492.3(NF1):c.6148-1G>A rs1555534661
NM_001042492.3(NF1):c.6225G>A (p.Trp2075Ter) rs1555534677
NM_001042492.3(NF1):c.6303del (p.Tyr2102fs) rs1597842936
NM_001042492.3(NF1):c.6352dup (p.Leu2118fs) rs2151554927
NM_001042492.3(NF1):c.6388del (p.Ile2130fs) rs1597843169
NM_001042492.3(NF1):c.6397_6398del (p.Leu2133fs) rs1567617129
NM_001042492.3(NF1):c.6401_6402del (p.Cys2134fs) rs1597843186
NM_001042492.3(NF1):c.6425del (p.Ser2142fs) rs2069691466
NM_001042492.3(NF1):c.6427+1G>T
NM_001042492.3(NF1):c.6427+2T>C rs1567617158
NM_001042492.3(NF1):c.6428-2A>G rs1060500312
NM_001042492.3(NF1):c.6428-3C>G rs374014162
NM_001042492.3(NF1):c.6430G>T (p.Glu2144Ter) rs1567617371
NM_001042492.3(NF1):c.6439C>T (p.Gln2147Ter) rs1555534859
NM_001042492.3(NF1):c.6462dup (p.Glu2155fs) rs1135402888
NM_001042492.3(NF1):c.6473T>A (p.Leu2158Ter) rs2151556088
NM_001042492.3(NF1):c.654+1G>A rs1060500245
NM_001042492.3(NF1):c.6583_6586del (p.Glu2195fs) rs1131691084
NM_001042492.3(NF1):c.6585_6586del (p.Glu2195fs) rs1131691084
NM_001042492.3(NF1):c.6596T>A (p.Leu2199Ter) rs1597843979
NM_001042492.3(NF1):c.662G>A (p.Trp221Ter) rs1131691126
NM_001042492.3(NF1):c.663del (p.Phe220_Trp221insTer) rs1555608736
NM_001042492.3(NF1):c.6642+1G>A rs1060500345
NM_001042492.3(NF1):c.6643-1_6643delinsTT rs2151557372
NM_001042492.3(NF1):c.6658_6659del (p.Ile2220fs) rs2151557411
NM_001042492.3(NF1):c.6669C>A (p.Cys2223Ter) rs1555534918
NM_001042492.3(NF1):c.6675G>A (p.Trp2225Ter) rs2069717916
NM_001042492.3(NF1):c.667T>C (p.Trp223Arg) rs1555608740
NM_001042492.3(NF1):c.6682C>T (p.Gln2228Ter) rs2069718249
NM_001042492.3(NF1):c.668G>A (p.Trp223Ter) rs1567826110
NM_001042492.3(NF1):c.669G>A (p.Trp223Ter) rs1057517967
NM_001042492.3(NF1):c.6704+1G>A rs1060500376
NM_001042492.3(NF1):c.6704+1del rs1597844692
NM_001042492.3(NF1):c.6713_6715del (p.Phe2238_Gln2239delinsTer) rs1555534948
NM_001042492.3(NF1):c.6715C>T (p.Gln2239Ter) rs1131691093
NM_001042492.3(NF1):c.6733C>T (p.Gln2245Ter) rs1597845013
NM_001042492.3(NF1):c.6751_6754del (p.Val2251fs) rs1567617877
NM_001042492.3(NF1):c.6772C>T (p.Arg2258Ter) rs876658541
NM_001042492.3(NF1):c.6796C>T (p.Gln2266Ter) rs1555534955
NM_001042492.3(NF1):c.67del (p.Pro22_Ile23insTer) rs1597625799
NM_001042492.3(NF1):c.6819+1G>A rs1555534964
NM_001042492.3(NF1):c.6819+2T>A rs1135402894
NM_001042492.3(NF1):c.6819+2T>C rs1135402894
NM_001042492.3(NF1):c.681T>G (p.Tyr227Ter) rs745804540
NM_001042492.3(NF1):c.6832del (p.Cys2278fs) rs2069742717
NM_001042492.3(NF1):c.6852_6855del (p.Tyr2285fs) rs1555535032
NM_001042492.3(NF1):c.6855C>A (p.Tyr2285Ter) rs772295894
NM_001042492.3(NF1):c.6864A>G (p.Gln2288=) rs1064794756
NM_001042492.3(NF1):c.688G>T (p.Glu230Ter) rs2066138676
NM_001042492.3(NF1):c.6904C>T (p.Gln2302Ter) rs1057518807
NM_001042492.3(NF1):c.6912_6916del (p.Leu2304_Leu2305insTer) rs878853025
NM_001042492.3(NF1):c.6921+1G>A rs1060500355
NM_001042492.3(NF1):c.6921+2T>C rs1555535053
NM_001042492.3(NF1):c.6929del (p.Pro2310fs) rs2151561461
NM_001042492.3(NF1):c.6932_6933del (p.Leu2311fs) rs2151561476
NM_001042492.3(NF1):c.6970C>T (p.Gln2324Ter) rs1131691073
NM_001042492.3(NF1):c.7015G>T (p.Glu2339Ter) rs1060500359
NM_001042492.3(NF1):c.7034T>G (p.Leu2345Ter) rs1555535195
NM_001042492.3(NF1):c.7037_7040del (p.Asp2346fs) rs1597848201
NM_001042492.3(NF1):c.7063-1G>A rs1131691114
NM_001042492.3(NF1):c.7063-1G>T rs1131691114
NM_001042492.3(NF1):c.7063-2A>G rs1597851255
NM_001042492.3(NF1):c.7063-2del rs2151564936
NM_001042492.3(NF1):c.706C>T (p.Gln236Ter)
NM_001042492.3(NF1):c.7113C>A (p.Cys2371Ter) rs2069867490
NM_001042492.3(NF1):c.7152dup (p.Asn2385Ter) rs1555535434
NM_001042492.3(NF1):c.7153AACTTT[1] (p.2385NF[1]) rs864622639
NM_001042492.3(NF1):c.7184del (p.Leu2394_Leu2395insTer) rs2069870374
NM_001042492.3(NF1):c.7188del (p.Tyr2398fs) rs777872719
NM_001042492.3(NF1):c.724dup (p.Met242fs) rs1555608763
NM_001042492.3(NF1):c.7255_7256del (p.Leu2419fs) rs1597858459
NM_001042492.3(NF1):c.7256_7257del (p.Leu2419fs) rs1555536027
NM_001042492.3(NF1):c.7266del (p.Lys2422fs) rs2151572751
NM_001042492.3(NF1):c.7269_7270del (p.His2423fs) rs878853913
NM_001042492.3(NF1):c.7271_7272del (p.Arg2424fs) rs2070076529
NM_001042492.3(NF1):c.7274del (p.Asn2425fs) rs1555536030
NM_001042492.3(NF1):c.7284del (p.Lys2428fs) rs2070077334
NM_001042492.3(NF1):c.730+1G>A rs1060500274
NM_001042492.3(NF1):c.730+2T>G rs200962248
NM_001042492.3(NF1):c.7303_7304del (p.Ser2435fs) rs1597858594
NM_001042492.3(NF1):c.730G>A (p.Glu244Lys) rs1567826188
NM_001042492.3(NF1):c.731-1G>A rs1555608928
NM_001042492.3(NF1):c.731-2A>G rs1555608924
NM_001042492.3(NF1):c.7314C>G (p.Tyr2438Ter) rs1060500385
NM_001042492.3(NF1):c.7322-2_7347del
NM_001042492.3(NF1):c.7330_7331insAA (p.Thr2444fs) rs1064794278
NM_001042492.3(NF1):c.7330dup (p.Thr2444fs) rs1064794278
NM_001042492.3(NF1):c.7348C>T (p.Arg2450Ter) rs786202457
NM_001042492.3(NF1):c.7368del (p.Lys2456fs)
NM_001042492.3(NF1):c.7428del (p.Ile2478fs)
NM_001042492.3(NF1):c.7453dup (p.Tyr2485fs) rs2070108811
NM_001042492.3(NF1):c.7458-1G>A rs1597862012
NM_001042492.3(NF1):c.7458-1G>C rs1597862012
NM_001042492.3(NF1):c.7465A>T (p.Lys2489Ter) rs1555536338
NM_001042492.3(NF1):c.7505_7508dup (p.Tyr2503Ter) rs1597862086
NM_001042492.3(NF1):c.7524T>G (p.Tyr2508Ter) rs2151577136
NM_001042492.3(NF1):c.7549C>T (p.Arg2517Ter) rs866445127
NM_001042492.3(NF1):c.7591C>T (p.Gln2531Ter) rs1555536372
NM_001042492.3(NF1):c.7602dup (p.Lys2535Ter) rs2070172428
NM_001042492.3(NF1):c.7614del (p.Gly2539fs) rs2070173038
NM_001042492.3(NF1):c.7615+1G>T rs1555536380
NM_001042492.3(NF1):c.7682C>G (p.Ser2561Ter) rs2070274228
NM_001042492.3(NF1):c.7701dup (p.Lys2568fs) rs1060500295
NM_001042492.3(NF1):c.7738+1G>A
NM_001042492.3(NF1):c.7747_7748del (p.Arg2583fs) rs1135402907
NM_001042492.3(NF1):c.7747_7748dup (p.Ile2584fs) rs1135402907
NM_001042492.3(NF1):c.7749del (p.Ile2584fs) rs2151582195
NM_001042492.3(NF1):c.7762C>T (p.Gln2588Ter) rs1555536687
NM_001042492.3(NF1):c.7772del (p.Pro2591fs) rs1064795136
NM_001042492.3(NF1):c.7778del (p.Leu2593fs) rs1567626919
NM_001042492.3(NF1):c.7784_7785del (p.Lys2595fs) rs1597866414
NM_001042492.3(NF1):c.7822dup (p.Glu2608fs)
NM_001042492.3(NF1):c.7869+1G>A rs1329683225
NM_001042492.3(NF1):c.7909C>T (p.Arg2637Ter) rs786201367
NM_001042492.3(NF1):c.7947_7948del (p.Phe2650fs) rs2070298589
NM_001042492.3(NF1):c.7950del (p.Val2653fs) rs2070298779
NM_001042492.3(NF1):c.7960_7963del (p.Phe2654fs)
NM_001042492.3(NF1):c.7964del (p.Pro2655fs) rs1567627268
NM_001042492.3(NF1):c.7970+1G>A rs1555536773
NM_001042492.3(NF1):c.801G>A (p.Trp267Ter) rs1064794273
NM_001042492.3(NF1):c.8059_8060del (p.Ser2687fs) rs1060500387
NM_001042492.3(NF1):c.8095C>T (p.Gln2699Ter) rs786203443
NM_001042492.3(NF1):c.8139_8143del (p.Phe2714fs)
NM_001042492.3(NF1):c.818del (p.Leu273fs) rs2143786053
NM_001042492.3(NF1):c.843_844delinsTT (p.Gln282Ter) rs2143786391
NM_001042492.3(NF1):c.844C>T (p.Gln282Ter) rs753054046
NM_001042492.3(NF1):c.888+2T>G rs2066160116
NM_001042492.3(NF1):c.889-2A>G rs878853922
NM_001042492.3(NF1):c.907_908del (p.Leu303fs)
NM_001042492.3(NF1):c.910C>T (p.Arg304Ter) rs786203950
NM_001042492.3(NF1):c.91_92del (p.His31fs) rs1567814432
NM_001042492.3(NF1):c.926del (p.Gly309fs) rs1597680816
NM_001042492.3(NF1):c.943C>T (p.Gln315Ter) rs766011053
NM_001042492.3(NF1):c.950_953dup (p.Glu318fs) rs1555610879
NM_001042492.3(NF1):c.952_953del (p.Glu318fs) rs2066507116
NM_001042492.3(NF1):c.978dup (p.Leu327fs) rs2066507887
NM_001042492.3(NF1):c.983_984del (p.Leu327_Cys328insTer) rs1555610893
NM_001042492.3(NF1):c.989C>T (p.Ala330Val) rs1555610898
NM_001042492.3(NF1):c.999del (p.Thr332_Tyr333insTer) rs2143873634

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