ClinVar Miner

List of variants in gene NF1 reported by GeneDx

Minimum submission review status: Collection method:
Minimum conflict level:
Gene type:
ClinVar version:
Total variants: 651
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HGVS dbSNP
GRCh38/hg38 17q11.2(chr17:31223174-31246335)x1
NM_000267.3(NF1):c.1005T>C (p.Asn335=) rs777369021
NM_000267.3(NF1):c.1020dup (p.Val341fs) rs1555610905
NM_000267.3(NF1):c.1032A>G (p.Leu344=) rs199832006
NM_000267.3(NF1):c.1039C>T (p.Gln347Ter) rs1555610910
NM_000267.3(NF1):c.1052T>C (p.Val351Ala) rs878853861
NM_000267.3(NF1):c.1062+3A>G rs1057521098
NM_000267.3(NF1):c.1063-122T>G
NM_000267.3(NF1):c.1063-205G>A
NM_000267.3(NF1):c.1063-2A>G rs1060500358
NM_000267.3(NF1):c.1069C>T (p.Leu357Phe) rs1567835662
NM_000267.3(NF1):c.1070T>G (p.Leu357Arg) rs137854563
NM_000267.3(NF1):c.107C>G (p.Thr36Ser) rs199966218
NM_000267.3(NF1):c.1082G>C (p.Ser361Thr) rs876660103
NM_000267.3(NF1):c.1108C>T (p.Pro370Ser) rs878853862
NM_000267.3(NF1):c.1137C>T (p.Cys379=) rs139648455
NM_000267.3(NF1):c.1166A>G (p.His389Arg) rs149739570
NM_000267.3(NF1):c.1170C>T (p.Asn390=) rs769004910
NM_000267.3(NF1):c.1173C>T (p.Asn391=) rs367986994
NM_000267.3(NF1):c.1176A>G (p.Gln392=) rs566220983
NM_000267.3(NF1):c.1186-19T>A rs772566923
NM_000267.3(NF1):c.1186-4A>G rs769295150
NM_000267.3(NF1):c.1186-8T>C
NM_000267.3(NF1):c.121G>T (p.Glu41Ter) rs1567814497
NM_000267.3(NF1):c.1243dup (p.His415fs) rs1085307728
NM_000267.3(NF1):c.1246C>T (p.Arg416Ter) rs764079291
NM_000267.3(NF1):c.1260+1334T>C
NM_000267.3(NF1):c.1260+1847A>C
NM_000267.3(NF1):c.1260+1859C>T
NM_000267.3(NF1):c.1260+59G>A
NM_000267.3(NF1):c.1264G>A (p.Ala422Thr) rs786202145
NM_000267.3(NF1):c.128T>C (p.Leu43Pro) rs1555604899
NM_000267.3(NF1):c.1296G>A (p.Val432=) rs371599283
NM_000267.3(NF1):c.1299T>G (p.Tyr433Ter) rs876660099
NM_000267.3(NF1):c.1308G>A (p.Ser436=) rs765425127
NM_000267.3(NF1):c.1318C>T (p.Arg440Ter) rs778405030
NM_000267.3(NF1):c.1331G>A (p.Gly444Asp) rs1555611582
NM_000267.3(NF1):c.1342C>T (p.His448Tyr) rs1131691257
NM_000267.3(NF1):c.1381C>T (p.Arg461Ter) rs878853865
NM_000267.3(NF1):c.1392+5_1392+6delinsTT rs587782851
NM_000267.3(NF1):c.1393-130A>T
NM_000267.3(NF1):c.1393-20T>C rs1057523234
NM_000267.3(NF1):c.1393-2dup rs1394021280
NM_000267.3(NF1):c.1393-32T>C rs2905876
NM_000267.3(NF1):c.1393-339A>G
NM_000267.3(NF1):c.1393-408T>C
NM_000267.3(NF1):c.1453G>T (p.Glu485Ter) rs1131691610
NM_000267.3(NF1):c.145T>A (p.Tyr49Asn) rs764367878
NM_000267.3(NF1):c.1527+1126G>T
NM_000267.3(NF1):c.1527+1314T>A
NM_000267.3(NF1):c.1527+1465G>T
NM_000267.3(NF1):c.1527+1G>A rs1060500331
NM_000267.3(NF1):c.1527+238C>T
NM_000267.3(NF1):c.1527+241A>G
NM_000267.3(NF1):c.1527+2T>G rs1064796700
NM_000267.3(NF1):c.153T>C (p.Phe51=) rs1057523892
NM_000267.3(NF1):c.1541_1542del (p.Gln514fs) rs267606600
NM_000267.3(NF1):c.1541del (p.Gln514fs) rs1555612815
NM_000267.3(NF1):c.1545G>T (p.Gly515=) rs876658203
NM_000267.3(NF1):c.1548C>G (p.Pro516=) rs768883989
NM_000267.3(NF1):c.1549G>A (p.Glu517Lys) rs587778548
NM_000267.3(NF1):c.1553C>T (p.Thr518Ile) rs587782696
NM_000267.3(NF1):c.1554C>A (p.Thr518=) rs876660849
NM_000267.3(NF1):c.1572del (p.Glu524fs) rs1085307461
NM_000267.3(NF1):c.1587C>T (p.Leu529=) rs786203041
NM_000267.3(NF1):c.1588G>A (p.Val530Ile) rs145191978
NM_000267.3(NF1):c.1591C>T (p.Gln531Ter) rs1057518134
NM_000267.3(NF1):c.1599C>G (p.Val533=) rs369458366
NM_000267.3(NF1):c.1605G>A (p.Gln535=) rs1567843919
NM_000267.3(NF1):c.1641+39T>C rs2905880
NM_000267.3(NF1):c.1642-158A>G
NM_000267.3(NF1):c.1642-1G>T rs1555613185
NM_000267.3(NF1):c.1642-659T>C
NM_000267.3(NF1):c.1646T>C (p.Leu549Pro) rs199474758
NM_000267.3(NF1):c.1650G>C (p.Leu550=) rs1555613190
NM_000267.3(NF1):c.1658A>G (p.His553Arg) rs1064794274
NM_000267.3(NF1):c.1661A>G (p.Gln554Arg) rs863224656
NM_000267.3(NF1):c.1662G>T (p.Gln554His) rs147594815
NM_000267.3(NF1):c.168C>T (p.Ser56=) rs17881168
NM_000267.3(NF1):c.1721+5A>G rs876658961
NM_000267.3(NF1):c.1721G>A (p.Ser574Asn) rs1555613206
NM_000267.3(NF1):c.1721G>T (p.Ser574Ile) rs1555613206
NM_000267.3(NF1):c.1722-1G>A rs1567845818
NM_000267.3(NF1):c.1722-321G>A
NM_000267.3(NF1):c.1726C>T (p.Gln576Ter) rs1060500278
NM_000267.3(NF1):c.1728A>G (p.Gln576=) rs1057523206
NM_000267.3(NF1):c.1734T>C (p.Leu578=) rs876658128
NM_000267.3(NF1):c.1754T>G (p.Leu585Ter)
NM_000267.3(NF1):c.1756_1759del (p.Thr586fs) rs786202782
NM_000267.3(NF1):c.1801_1803del (p.Arg601del) rs1555613421
NM_000267.3(NF1):c.1802G>A (p.Arg601Gln) rs1060500288
NM_000267.3(NF1):c.1810T>C (p.Leu604=) rs142712751
NM_000267.3(NF1):c.1845+13A>T rs17885739
NM_000267.3(NF1):c.1845+14C>T rs1057523395
NM_000267.3(NF1):c.1845+17_1845+18delAT rs765979407
NM_000267.3(NF1):c.1845G>T (p.Lys615Asn) rs1131691080
NM_000267.3(NF1):c.1846-12A>T rs188510882
NM_000267.3(NF1):c.1846-178A>C
NM_000267.3(NF1):c.1855A>G (p.Arg619Gly) rs587781821
NM_000267.3(NF1):c.1863del (p.Cys622fs) rs1131691777
NM_000267.3(NF1):c.1866T>C (p.Cys622=) rs753245823
NM_000267.3(NF1):c.1885G>A (p.Gly629Arg) rs199474738
NM_000267.3(NF1):c.1900A>G (p.Ile634Val) rs745906742
NM_000267.3(NF1):c.1933A>G (p.Met645Val) rs146051850
NM_000267.3(NF1):c.1969_1970TC[2] (p.Leu658fs) rs1064796843
NM_000267.3(NF1):c.1994C>T (p.Ser665Phe) rs145891889
NM_000267.3(NF1):c.1998T>C (p.Ser666=) rs1567846823
NM_000267.3(NF1):c.2001+198G>A
NM_000267.3(NF1):c.2002-1G>A rs1555613743
NM_000267.3(NF1):c.200del (p.Asn67fs) rs1555604942
NM_000267.3(NF1):c.2022C>T (p.Ser674=) rs2230851
NM_000267.3(NF1):c.2023G>A (p.Gly675Arg) rs779546178
NM_000267.3(NF1):c.2033C>T (p.Pro678Leu) rs17881753
NM_000267.3(NF1):c.2033dup (p.Ile679fs) rs587781807
NM_000267.3(NF1):c.2034G>A (p.Pro678=) rs2285892
NM_000267.3(NF1):c.2034delinsCA (p.Ile679fs) rs1064796331
NM_000267.3(NF1):c.204+1G>A rs886039548
NM_000267.3(NF1):c.204+1G>T rs886039548
NM_000267.3(NF1):c.204+5G>C rs1131691499
NM_000267.3(NF1):c.2041C>T (p.Arg681Ter) rs768638173
NM_000267.3(NF1):c.2061A>G (p.Leu687=) rs143671377
NM_000267.3(NF1):c.2077A>G (p.Met693Val) rs1555613794
NM_000267.3(NF1):c.2123C>T (p.Ser708Phe) rs1567847493
NM_000267.3(NF1):c.2131C>T (p.Arg711Cys) rs1400902839
NM_000267.3(NF1):c.2133C>T (p.Arg711=) rs148085908
NM_000267.3(NF1):c.2135_2136dup (p.Leu713fs) rs1555613810
NM_000267.3(NF1):c.2142T>A (p.Cys714Ter) rs141382637
NM_000267.3(NF1):c.2142T>C (p.Cys714=) rs141382637
NM_000267.3(NF1):c.2149del (p.Ala717fs) rs1567847540
NM_000267.3(NF1):c.2160G>T (p.Arg720=) rs765339408
NM_000267.3(NF1):c.2163T>A (p.Cys721Ter) rs1555613816
NM_000267.3(NF1):c.2178G>C (p.Val726=) rs369590240
NM_000267.3(NF1):c.2191C>T (p.Leu731Phe) rs185204667
NM_000267.3(NF1):c.2238T>C (p.Asn746=) rs768161162
NM_000267.3(NF1):c.2248A>G (p.Thr750Ala) rs748064845
NM_000267.3(NF1):c.2250A>G (p.Thr750=) rs876659061
NM_000267.3(NF1):c.2251+203G>T
NM_000267.3(NF1):c.2252-34T>C rs200937398
NM_000267.3(NF1):c.2294G>A (p.Arg765His) rs199474777
NM_000267.3(NF1):c.2294G>T (p.Arg765Leu)
NM_000267.3(NF1):c.2325+16C>G rs371709563
NM_000267.3(NF1):c.2325+1G>A rs1555613933
NM_000267.3(NF1):c.2325+2T>C rs1567847972
NM_000267.3(NF1):c.2325+3A>G rs1057517848
NM_000267.3(NF1):c.2329T>A (p.Trp777Arg) rs876658853
NM_000267.3(NF1):c.233del (p.Asn78fs) rs1438566555
NM_000267.3(NF1):c.235T>C (p.Leu79=) rs764855221
NM_000267.3(NF1):c.237A>G (p.Leu79=) rs752208826
NM_000267.3(NF1):c.2409+1G>T rs1555614022
NM_000267.3(NF1):c.240_241TC[2] (p.Ser82_Gln83insTer) rs771115661
NM_000267.3(NF1):c.2410-13A>T rs1567848711
NM_000267.3(NF1):c.2410G>C (p.Ala804Pro) rs761109477
NM_000267.3(NF1):c.2446C>T (p.Arg816Ter) rs886041347
NM_000267.3(NF1):c.245C>T (p.Ser82Phe) rs199474729
NM_000267.3(NF1):c.2462G>T (p.Ser821Ile) rs1303972238
NM_000267.3(NF1):c.2490C>T (p.Asp830=) rs786201629
NM_000267.3(NF1):c.2502A>G (p.Leu834=) rs953405312
NM_000267.3(NF1):c.2503C>T (p.Gln835Ter) rs1555614207
NM_000267.3(NF1):c.2510G>A (p.Trp837Ter) rs1348129244
NM_000267.3(NF1):c.2514C>T (p.Ile838=) rs863224352
NM_000267.3(NF1):c.2517C>T (p.Asn839=) rs876659543
NM_000267.3(NF1):c.2518A>G (p.Met840Val)
NM_000267.3(NF1):c.2523_2524insAAG (p.Gly842_Phe843insLys) rs1555614222
NM_000267.3(NF1):c.2540T>C (p.Leu847Pro) rs199474747
NM_000267.3(NF1):c.2544G>A (p.Gly848=) rs17883704
NM_000267.3(NF1):c.2545G>T (p.Gly849Ter) rs1064794275
NM_000267.3(NF1):c.2547A>C (p.Gly849=) rs748303121
NM_000267.3(NF1):c.2553C>T (p.Cys851=) rs2230852
NM_000267.3(NF1):c.2560C>T (p.Gln854Ter) rs1555614261
NM_000267.3(NF1):c.2573C>G (p.Ser858Cys) rs369493270
NM_000267.3(NF1):c.2581G>C (p.Ala861Pro) rs768425956
NM_000267.3(NF1):c.2619T>C (p.Arg873=) rs766212733
NM_000267.3(NF1):c.2640G>A (p.Val880=) rs786202443
NM_000267.3(NF1):c.2665dup (p.Thr889fs) rs886041348
NM_000267.3(NF1):c.2693_2695TGT[1] (p.Leu899del) rs1064796946
NM_000267.3(NF1):c.2747A>G (p.Asn916Ser) rs765043916
NM_000267.3(NF1):c.2767C>A (p.Leu923Ile) rs1567849138
NM_000267.3(NF1):c.277T>C (p.Cys93Arg) rs1555605398
NM_000267.3(NF1):c.2791_2800del (p.Pro931fs) rs1064795730
NM_000267.3(NF1):c.2810T>G (p.Leu937Trp) rs1567849184
NM_000267.3(NF1):c.2819C>G (p.Thr940Ser) rs368995630
NM_000267.3(NF1):c.2838C>T (p.Asp946=) rs147188807
NM_000267.3(NF1):c.2850+1G>T rs1131691122
NM_000267.3(NF1):c.2850G>A (p.Gln950=)
NM_000267.3(NF1):c.2851-16T>C rs17880825
NM_000267.3(NF1):c.2851-21_2851-17delATGTA rs758020046
NM_000267.3(NF1):c.288+41G>A rs2952976
NM_000267.3(NF1):c.2889A>G (p.Gln963=) rs1567849526
NM_000267.3(NF1):c.289-12T>C rs1486449114
NM_000267.3(NF1):c.289-1886A>G
NM_000267.3(NF1):c.2890del (p.Thr964fs) rs1555614437
NM_000267.3(NF1):c.2902A>G (p.Met968Val) rs587781499
NM_000267.3(NF1):c.2921A>G (p.Asn974Ser) rs557875547
NM_000267.3(NF1):c.2970_2972del (p.Met992del) rs267606606
NM_000267.3(NF1):c.2971A>G (p.Met991Val) rs1268543864
NM_000267.3(NF1):c.2975T>A (p.Met992Lys) rs1567849596
NM_000267.3(NF1):c.2985G>C (p.Leu995=) rs17881467
NM_000267.3(NF1):c.2990+1G>T
NM_000267.3(NF1):c.2991-6A>G rs1191095886
NM_000267.3(NF1):c.2991-97T>C
NM_000267.3(NF1):c.2991G>T (p.Arg997Ser) rs755501749
NM_000267.3(NF1):c.3002T>A (p.Val1001Glu) rs1131691844
NM_000267.3(NF1):c.3013A>G (p.Met1005Val) rs1555614502
NM_000267.3(NF1):c.3045G>A (p.Leu1015=) rs926335233
NM_000267.3(NF1):c.304A>G (p.Met102Val) rs756370324
NM_000267.3(NF1):c.3063A>C (p.Val1021=) rs768611775
NM_000267.3(NF1):c.3103A>G (p.Met1035Val) rs771694969
NM_000267.3(NF1):c.3104T>C (p.Met1035Thr) rs137854553
NM_000267.3(NF1):c.3106A>T (p.Lys1036Ter) rs1567849891
NM_000267.3(NF1):c.3113+1G>A rs267606599
NM_000267.3(NF1):c.3114-2A>G rs1428885377
NM_000267.3(NF1):c.311T>G (p.Leu104Ter) rs1057521097
NM_000267.3(NF1):c.3187T>C (p.Cys1063Arg)
NM_000267.3(NF1):c.3197+139T>C
NM_000267.3(NF1):c.3197+1G>A rs1555614653
NM_000267.3(NF1):c.3197+3A>G rs1359512152
NM_000267.3(NF1):c.3197+505C>T
NM_000267.3(NF1):c.3197+9dupA rs755212937
NM_000267.3(NF1):c.3197G>A (p.Arg1066Lys) rs1555614652
NM_000267.3(NF1):c.3198-289A>G
NM_000267.3(NF1):c.3198-4T>C rs587782218
NM_000267.3(NF1):c.3198-5T>C rs587782639
NM_000267.3(NF1):c.3198-5T>G
NM_000267.3(NF1):c.3198-5_3198-4insC rs1555614804
NM_000267.3(NF1):c.320C>T (p.Thr107Met) rs1567817857
NM_000267.3(NF1):c.3216C>G (p.Ser1072Arg) rs1567850647
NM_000267.3(NF1):c.3217A>G (p.Met1073Val) rs199474740
NM_000267.3(NF1):c.3239T>C (p.Leu1080Pro) rs1555614833
NM_000267.3(NF1):c.3261dup (p.Glu1088Ter) rs1555614851
NM_000267.3(NF1):c.3270A>C (p.Gly1090=) rs150015024
NM_000267.3(NF1):c.3299_3300CA[1] (p.Gln1101fs) rs1555614866
NM_000267.3(NF1):c.3315-130G>C
NM_000267.3(NF1):c.3315-8T>C rs764783865
NM_000267.3(NF1):c.3375G>A (p.Ala1125=) rs112589561
NM_000267.3(NF1):c.3375G>T (p.Ala1125=) rs112589561
NM_000267.3(NF1):c.3376C>T (p.Gln1126Ter) rs1555614947
NM_000267.3(NF1):c.340C>T (p.Leu114=) rs7207410
NM_000267.3(NF1):c.3447G>A (p.Met1149Ile) rs1064794277
NM_000267.3(NF1):c.3449C>G (p.Ser1150Ter) rs1555614972
NM_000267.3(NF1):c.3461A>T (p.Asn1154Ile) rs371544233
NM_000267.3(NF1):c.3468C>T (p.Asn1156=) rs147955381
NM_000267.3(NF1):c.3495A>G (p.Ile1165Met) rs876660814
NM_000267.3(NF1):c.3496+19T>C rs9890283
NM_000267.3(NF1):c.3498C>T (p.Gly1166=) rs2066733
NM_000267.3(NF1):c.3525_3526del (p.Arg1176fs) rs1131691092
NM_000267.3(NF1):c.354C>T (p.Cys118=) rs768777585
NM_000267.3(NF1):c.3563A>C (p.Gln1188Pro) rs758419553
NM_000267.3(NF1):c.3604G>T (p.Ala1202Ser) rs146641724
NM_000267.3(NF1):c.3610C>G (p.Arg1204Gly) rs199474732
NM_000267.3(NF1):c.3611G>T (p.Arg1204Leu) rs1057521848
NM_000267.3(NF1):c.3636C>A (p.Val1212=) rs145126193
NM_000267.3(NF1):c.3677dup (p.Leu1227fs) rs1567851501
NM_000267.3(NF1):c.3686A>G (p.Asn1229Ser) rs140523180
NM_000267.3(NF1):c.3690G>A (p.Val1230=) rs183296277
NM_000267.3(NF1):c.369C>G (p.Thr123=) rs146691765
NM_000267.3(NF1):c.3703C>T (p.Gln1235Ter) rs1555615109
NM_000267.3(NF1):c.3706T>C (p.Trp1236Arg) rs1555615111
NM_000267.3(NF1):c.3721C>T (p.Arg1241Ter) rs137854562
NM_000267.3(NF1):c.3722G>A (p.Arg1241Gln) rs543387071
NM_000267.3(NF1):c.3728T>C (p.Leu1243Pro) rs137854564
NM_000267.3(NF1):c.372_373insTT (p.Arg125fs) rs1555606080
NM_000267.3(NF1):c.3732T>A (p.Val1244=) rs756653022
NM_000267.3(NF1):c.3737dup (p.Phe1247fs) rs1555615445
NM_000267.3(NF1):c.3739_3742del (p.Phe1247fs) rs1064794276
NM_000267.3(NF1):c.374G>A (p.Arg125His) rs149003051
NM_000267.3(NF1):c.3763C>T (p.Gln1255Ter) rs1060500308
NM_000267.3(NF1):c.3826C>T (p.Arg1276Ter) rs199474742
NM_000267.3(NF1):c.3827G>A (p.Arg1276Gln) rs137854556
NM_000267.3(NF1):c.3867C>G (p.Phe1289Leu) rs138186428
NM_000267.3(NF1):c.3867C>T (p.Phe1289=) rs138186428
NM_000267.3(NF1):c.3871-4G>C rs558421445
NM_000267.3(NF1):c.3883A>G (p.Thr1295Ala) rs143836226
NM_000267.3(NF1):c.3906T>G (p.Asp1302Glu) rs549058591
NM_000267.3(NF1):c.3911T>A (p.Leu1304Ter) rs761512189
NM_000267.3(NF1):c.3916C>A (p.Arg1306=) rs376576925
NM_000267.3(NF1):c.3916C>T (p.Arg1306Ter) rs376576925
NM_000267.3(NF1):c.392C>T (p.Ala131Val) rs1567817930
NM_000267.3(NF1):c.3947A>G (p.His1316Arg) rs751023085
NM_000267.3(NF1):c.3974+260T>G rs1567853044
NM_000267.3(NF1):c.3974+528C>A
NM_000267.3(NF1):c.3989A>C (p.Glu1330Ala) rs1256727206
NM_000267.3(NF1):c.4000G>A (p.Glu1334Lys) rs878853892
NM_000267.3(NF1):c.4010G>T (p.Arg1337Leu)
NM_000267.3(NF1):c.4018C>T (p.Leu1340Phe) rs876658268
NM_000267.3(NF1):c.4048A>G (p.Ile1350Val) rs1567858357
NM_000267.3(NF1):c.4084C>T (p.Arg1362Ter) rs137854560
NM_000267.3(NF1):c.4095C>T (p.Cys1365=) rs1060503922
NM_000267.3(NF1):c.4098C>G (p.His1366Gln) rs1555617377
NM_000267.3(NF1):c.4110+1111G>A
NM_000267.3(NF1):c.4110+14T>C rs1019229165
NM_000267.3(NF1):c.4110+15dupA rs763846160
NM_000267.3(NF1):c.4110+2114C>T
NM_000267.3(NF1):c.4111-264T>C
NM_000267.3(NF1):c.4111-287G>A
NM_000267.3(NF1):c.4111-8_4111-6del rs751729752
NM_000267.3(NF1):c.4143C>T (p.Ile1381=) rs864622406
NM_000267.3(NF1):c.4144G>A (p.Gly1382Ser) rs138227618
NM_000267.3(NF1):c.4156A>G (p.Ser1386Gly) rs587781755
NM_000267.3(NF1):c.4167C>T (p.Phe1389=) rs750213850
NM_000267.3(NF1):c.4168C>T (p.Leu1390Phe) rs199474789
NM_000267.3(NF1):c.4184C>A (p.Pro1395His) rs1555618521
NM_000267.3(NF1):c.4197_4198del (p.Pro1400fs) rs1555618536
NM_000267.3(NF1):c.4206A>G (p.Glu1402=) rs17886566
NM_000267.3(NF1):c.4227_4228delinsCT (p.Lys1409_Pro1410delinsAsnSer) rs1567862024
NM_000267.3(NF1):c.422_437del (p.Val141fs) rs1555606098
NM_000267.3(NF1):c.4255A>C (p.Lys1419Gln) rs199474790
NM_000267.3(NF1):c.4267A>G (p.Lys1423Glu) rs137854550
NM_000267.3(NF1):c.4269G>A (p.Lys1423=) rs199474750
NM_000267.3(NF1):c.4270-2A>G rs1555618634
NM_000267.3(NF1):c.4270-2delA rs886041630
NM_000267.3(NF1):c.4317dup (p.Met1440fs) rs886041435
NM_000267.3(NF1):c.4367+2T>G rs1555618693
NM_000267.3(NF1):c.4367+72C>T
NM_000267.3(NF1):c.4368-46G>C rs17881285
NM_000267.3(NF1):c.4373dup (p.Leu1459fs) rs1555618803
NM_000267.3(NF1):c.4382T>C (p.Ile1461Thr) rs746994734
NM_000267.3(NF1):c.4399A>G (p.Thr1467Ala) rs876660162
NM_000267.3(NF1):c.4418A>T (p.His1473Leu)
NM_000267.3(NF1):c.4440C>T (p.Asp1480=) rs577394398
NM_000267.3(NF1):c.4444A>C (p.Asn1482His) rs1555618837
NM_000267.3(NF1):c.4463G>A (p.Arg1488His) rs546073780
NM_000267.3(NF1):c.4514+11C>G rs190614908
NM_000267.3(NF1):c.4514+12C>T rs17878332
NM_000267.3(NF1):c.4514+1G>A rs1279529138
NM_000267.3(NF1):c.4515-1G>C rs1555618999
NM_000267.3(NF1):c.4534A>T (p.Arg1512Ter) rs1064796633
NM_000267.3(NF1):c.4537C>T (p.Arg1513Ter) rs760703505
NM_000267.3(NF1):c.4561C>G (p.Leu1521Val) rs1555619011
NM_000267.3(NF1):c.4563T>C (p.Leu1521=) rs1555619012
NM_000267.3(NF1):c.456A>C (p.Ala152=) rs377481833
NM_000267.3(NF1):c.4572C>T (p.Tyr1524=) rs754023358
NM_000267.3(NF1):c.4606dup (p.Thr1536fs) rs1555619033
NM_000267.3(NF1):c.4609C>T (p.His1537Tyr) rs1468638747
NM_000267.3(NF1):c.4621del (p.Asn1542fs) rs1555619041
NM_000267.3(NF1):c.4658C>T (p.Thr1553Ile) rs1567863650
NM_000267.3(NF1):c.4662-13A>G rs759742216
NM_000267.3(NF1):c.4662-3T>C rs892441625
NM_000267.3(NF1):c.4673A>G (p.His1558Arg) rs1275751975
NM_000267.3(NF1):c.467G>T (p.Arg156Leu) rs754096545
NM_000267.3(NF1):c.4686A>G (p.Glu1562=) rs144091165
NM_000267.3(NF1):c.4703C>T (p.Thr1568Met) rs185660700
NM_000267.3(NF1):c.4735A>T (p.Lys1579Ter) rs1567865056
NM_000267.3(NF1):c.4750A>G (p.Ile1584Val) rs199474766
NM_000267.3(NF1):c.475A>G (p.Thr159Ala) rs371192107
NM_000267.3(NF1):c.4761T>A (p.Tyr1587Ter) rs1567865089
NM_000267.3(NF1):c.4768C>T (p.Arg1590Trp) rs1060500316
NM_000267.3(NF1):c.4772+193T>C
NM_000267.3(NF1):c.4772+1G>T rs1085307819
NM_000267.3(NF1):c.4772+36T>C rs16972128
NM_000267.3(NF1):c.4773-11A>G rs1437937029
NM_000267.3(NF1):c.4773-1G>A rs1057518326
NM_000267.3(NF1):c.4773-2A>C rs1555533265
NM_000267.3(NF1):c.4773-307A>G
NM_000267.3(NF1):c.4788A>G (p.Gln1596=) rs150309802
NM_000267.3(NF1):c.478A>G (p.Arg160Gly) rs1555606128
NM_000267.3(NF1):c.479+1G>T rs1555606137
NM_000267.3(NF1):c.479+208C>T
NM_000267.3(NF1):c.479+4A>G rs1567818032
NM_000267.3(NF1):c.479+6T>C rs1567818036
NM_000267.3(NF1):c.4797T>C (p.Gly1599=) rs864622747
NM_000267.3(NF1):c.480-2A>G rs1567820688
NM_000267.3(NF1):c.480-90C>T
NM_000267.3(NF1):c.480G>A (p.Arg160=) rs1555607071
NM_000267.3(NF1):c.4817T>A (p.Val1606Asp) rs1567611231
NM_000267.3(NF1):c.4819T>C (p.Leu1607=) rs10512435
NM_000267.3(NF1):c.4824G>A (p.Leu1608=) rs368638966
NM_000267.3(NF1):c.4829T>C (p.Leu1610Ser) rs1555533292
NM_000267.3(NF1):c.4866G>A (p.Val1622=) rs17880521
NM_000267.3(NF1):c.4880C>T (p.Thr1627Ile) rs376655102
NM_000267.3(NF1):c.4881C>T (p.Thr1627=) rs759291615
NM_000267.3(NF1):c.4912_4913CT[1] (p.Lys1640fs) rs1085307459
NM_000267.3(NF1):c.4956C>T (p.Asn1652=) rs767699634
NM_000267.3(NF1):c.495_498TGTT[1] (p.Cys167fs) rs786201874
NM_000267.3(NF1):c.4967_4972TCTATA[1] (p.Ile1658_Tyr1659del) rs1135402868
NM_000267.3(NF1):c.4972A>G (p.Ile1658Val) rs147327414
NM_000267.3(NF1):c.4974C>G (p.Ile1658Met) rs1555533349
NM_000267.3(NF1):c.4986C>T (p.Asn1662=) rs140994965
NM_000267.3(NF1):c.503C>G (p.Ser168Ter) rs1131691994
NM_000267.3(NF1):c.5097G>T (p.Glu1699Asp) rs773378630
NM_000267.3(NF1):c.512A>G (p.Asn171Ser) rs767500770
NM_000267.3(NF1):c.5152G>C (p.Val1718Leu) rs876659956
NM_000267.3(NF1):c.5172G>A (p.Lys1724=) rs17887014
NM_000267.3(NF1):c.5184dup (p.Asp1729fs) rs1555533409
NM_000267.3(NF1):c.5205+157A>T
NM_000267.3(NF1):c.5205+23T>C rs9894648
NM_000267.3(NF1):c.5206-14C>G
NM_000267.3(NF1):c.5206-265T>C
NM_000267.3(NF1):c.5206delG rs1555533549
NM_000267.3(NF1):c.5217T>C (p.Thr1739=) rs779104728
NM_000267.3(NF1):c.5230A>G (p.Thr1744Ala) rs747584987
NM_000267.3(NF1):c.5234C>G (p.Ser1745Ter) rs1555533555
NM_000267.3(NF1):c.5242C>T (p.Arg1748Ter) rs876657714
NM_000267.3(NF1):c.5248A>G (p.Lys1750Glu) rs1131691103
NM_000267.3(NF1):c.5257_5261dup (p.Ser1755fs) rs1555533562
NM_000267.3(NF1):c.527A>G (p.Asp176Gly) rs1567820732
NM_000267.3(NF1):c.528T>A (p.Asp176Glu) rs112306990
NM_000267.3(NF1):c.5295G>A (p.Ser1765=) rs373313111
NM_000267.3(NF1):c.529A>G (p.Ile177Val) rs766213678
NM_000267.3(NF1):c.5361G>A (p.Thr1787=) rs765841113
NM_000267.3(NF1):c.5363C>T (p.Pro1788Leu) rs587782220
NM_000267.3(NF1):c.5368_5386del (p.Thr1790fs) rs1567612488
NM_000267.3(NF1):c.5379C>G (p.His1793Gln)
NM_000267.3(NF1):c.5419C>T (p.Arg1807Trp) rs1555533609
NM_000267.3(NF1):c.5425C>T (p.Arg1809Cys) rs797045139
NM_000267.3(NF1):c.5450C>G (p.Ser1817Cys) rs368654378
NM_000267.3(NF1):c.5460A>T (p.Gln1820His) rs151046636
NM_000267.3(NF1):c.5466dup (p.Lys1823fs) rs1555533628
NM_000267.3(NF1):c.5470A>T (p.Ile1824Phe) rs1567612641
NM_000267.3(NF1):c.5478_5484del (p.Lys1827fs) rs1064796631
NM_000267.3(NF1):c.5489C>G (p.Pro1830Arg) rs1555533638
NM_000267.3(NF1):c.5489C>T (p.Pro1830Leu) rs1555533638
NM_000267.3(NF1):c.5528G>C (p.Ser1843Thr) rs1567612716
NM_000267.3(NF1):c.5546+117G>A
NM_000267.3(NF1):c.5546+19T>A rs2285894
NM_000267.3(NF1):c.5546G>A (p.Arg1849Gln) rs786202112
NM_000267.3(NF1):c.5547-1G>C rs1567613569
NM_000267.3(NF1):c.5562_5564TCT[1] (p.Leu1856del) rs1131691081
NM_000267.3(NF1):c.5586C>T (p.Thr1862=) rs139696493
NM_000267.3(NF1):c.5589T>A (p.Phe1863Leu) rs1567613616
NM_000267.3(NF1):c.5594T>A (p.Leu1865Ter) rs1555533853
NM_000267.3(NF1):c.5601C>T (p.Ile1867=) rs373685150
NM_000267.3(NF1):c.5642C>T (p.Ala1881Val) rs1465309384
NM_000267.3(NF1):c.5679A>T (p.Thr1893=) rs1555533874
NM_000267.3(NF1):c.5694G>A (p.Glu1898=) rs141077224
NM_000267.3(NF1):c.569T>G (p.Leu190Ter) rs1555607112
NM_000267.3(NF1):c.5730T>C (p.Ile1910=) rs779114598
NM_000267.3(NF1):c.5749+110T>G
NM_000267.3(NF1):c.5749+6T>G rs1555533893
NM_000267.3(NF1):c.5749+8A>G rs372075322
NM_000267.3(NF1):c.574C>T (p.Arg192Ter) rs397514641
NM_000267.3(NF1):c.5750-14G>A rs779945790
NM_000267.3(NF1):c.5750-516G>T
NM_000267.3(NF1):c.5759T>A (p.Leu1920Ter) rs1555534375
NM_000267.3(NF1):c.5779T>G (p.Tyr1927Asp) rs1057520575
NM_000267.3(NF1):c.5793G>A (p.Trp1931Ter) rs1555534393
NM_000267.3(NF1):c.5817C>A (p.Cys1939Ter) rs1462287670
NM_000267.3(NF1):c.5820G>A (p.Lys1940=) rs144808600
NM_000267.3(NF1):c.5839C>T (p.Arg1947Ter) rs137854552
NM_000267.3(NF1):c.5843A>T (p.Gln1948Leu) rs143502927
NM_000267.3(NF1):c.586+251A>G
NM_000267.3(NF1):c.586+273A>G
NM_000267.3(NF1):c.586+5G>C
NM_000267.3(NF1):c.586delinsTTAA (p.Glu196delinsLeuLys) rs1555607123
NM_000267.3(NF1):c.587-2A>T rs1057518360
NM_000267.3(NF1):c.5888A>G (p.Asn1963Ser) rs764291252
NM_000267.3(NF1):c.5890G>A (p.Glu1964Lys) rs1567615890
NM_000267.3(NF1):c.5895A>G (p.Lys1965=) rs1216926117
NM_000267.3(NF1):c.5896C>T (p.Gln1966Ter) rs876659070
NM_000267.3(NF1):c.5904C>G (p.Tyr1968Ter) rs1567615902
NM_000267.3(NF1):c.5932A>T (p.Ser1978Cys)
NM_000267.3(NF1):c.5943+1G>A rs1555534433
NM_000267.3(NF1):c.5943_5943+1delGGinsAA rs1064796077
NM_000267.3(NF1):c.5944-179A>C
NM_000267.3(NF1):c.5944-1G>C rs1555534596
NM_000267.3(NF1):c.5944-286A>G
NM_000267.3(NF1):c.594A>T (p.Ala198=) rs138411879
NM_000267.3(NF1):c.5968C>G (p.Leu1990Val) rs1567616649
NM_000267.3(NF1):c.5970A>G (p.Leu1990=) rs147995863
NM_000267.3(NF1):c.5974A>G (p.Ser1992Gly) rs876658710
NM_000267.3(NF1):c.5997A>G (p.Thr1999=) rs761889172
NM_000267.3(NF1):c.5999del (p.Gly2000fs) rs1057518475
NM_000267.3(NF1):c.60+217C>T
NM_000267.3(NF1):c.6025dup (p.Val2009fs) rs1555534609
NM_000267.3(NF1):c.6084+11T>C rs201275748
NM_000267.3(NF1):c.6084+8C>G rs182709912
NM_000267.3(NF1):c.6085-12_6085-10delGCT rs1555534655
NM_000267.3(NF1):c.61-123G>A
NM_000267.3(NF1):c.61-13delC rs1215659707
NM_000267.3(NF1):c.61-300C>T
NM_000267.3(NF1):c.61-4delT rs551568608
NM_000267.3(NF1):c.6108A>T (p.Ile2036=) rs140733963
NM_000267.3(NF1):c.6162G>A (p.Trp2054Ter) rs1555534677
NM_000267.3(NF1):c.6232C>T (p.His2078Tyr) rs1060500382
NM_000267.3(NF1):c.624G>A (p.Ala208=) rs370184932
NM_000267.3(NF1):c.6287_6290del (p.Ser2096fs) rs1064795492
NM_000267.3(NF1):c.6312G>A (p.Leu2104=) rs773467465
NM_000267.3(NF1):c.6330C>T (p.His2110=) rs17881788
NM_000267.3(NF1):c.6365-3C>A rs374014162
NM_000267.3(NF1):c.6365-3C>T rs374014162
NM_000267.3(NF1):c.6367G>T (p.Glu2123Ter) rs1567617371
NM_000267.3(NF1):c.6386_6397del (p.Arg2129_Leu2132del) rs1555534860
NM_000267.3(NF1):c.6465T>C (p.Ile2155=) rs147522129
NM_000267.3(NF1):c.6472C>T (p.Arg2158Cys) rs878853908
NM_000267.3(NF1):c.6486G>A (p.Arg2162=) rs1028183407
NM_000267.3(NF1):c.6495A>C (p.Ser2165=) rs753509749
NM_000267.3(NF1):c.6522G>A (p.Glu2174=) rs202151774
NM_000267.3(NF1):c.6558A>C (p.Glu2186Asp)
NM_000267.3(NF1):c.6561T>C (p.Ala2187=) rs746061888
NM_000267.3(NF1):c.6565T>C (p.Leu2189=) rs138265293
NM_000267.3(NF1):c.6579+1G>A rs1060500345
NM_000267.3(NF1):c.6579+45T>A rs17883614
NM_000267.3(NF1):c.6579G>C (p.Glu2193Asp)
NM_000267.3(NF1):c.6601A>G (p.Thr2201Ala) rs745945481
NM_000267.3(NF1):c.660_665del (p.Asn222_Trp223del) rs1064796137
NM_000267.3(NF1):c.6611G>A (p.Trp2204Ter) rs1193716348
NM_000267.3(NF1):c.663del (p.Phe220_Trp221insTer) rs1555608736
NM_000267.3(NF1):c.6641+3A>G rs375560135
NM_000267.3(NF1):c.6642-17G>A rs1064795966
NM_000267.3(NF1):c.6650_6652del (p.Phe2217_Gln2218delinsTer) rs1555534948
NM_000267.3(NF1):c.667T>C (p.Trp223Arg) rs1555608740
NM_000267.3(NF1):c.6688_6691del (p.Val2230fs) rs1567617877
NM_000267.3(NF1):c.669G>A (p.Trp223Ter) rs1057517967
NM_000267.3(NF1):c.6709C>T (p.Arg2237Ter) rs876658541
NM_000267.3(NF1):c.6727A>G (p.Ile2243Val)
NM_000267.3(NF1):c.6727A>T (p.Ile2243Leu) rs761213794
NM_000267.3(NF1):c.6733C>T (p.Gln2245Ter) rs1555534955
NM_000267.3(NF1):c.6756+2T>A
NM_000267.3(NF1):c.6756+4C>T rs755135948
NM_000267.3(NF1):c.6771C>T (p.Cys2257=) rs149603406
NM_000267.3(NF1):c.6789_6792del (p.Tyr2264fs) rs1555535032
NM_000267.3(NF1):c.6791dup (p.Tyr2264Ter) rs876657715
NM_000267.3(NF1):c.6792C>A (p.Tyr2264Ter) rs772295894
NM_000267.3(NF1):c.6792C>G (p.Tyr2264Ter) rs772295894
NM_000267.3(NF1):c.6801A>G (p.Gln2267=) rs1064794756
NM_000267.3(NF1):c.6816T>C (p.Ala2272=) rs761125983
NM_000267.3(NF1):c.681T>C (p.Tyr227=) rs745804540
NM_000267.3(NF1):c.6858+117A>G
NM_000267.3(NF1):c.6858+3A>G rs1085307885
NM_000267.3(NF1):c.6858G>T (p.Lys2286Asn) rs1057523533
NM_000267.3(NF1):c.6859-13T>A
NM_000267.3(NF1):c.6859-16A>G rs202158964
NM_000267.3(NF1):c.6866C>T (p.Pro2289Leu) rs148736217
NM_000267.3(NF1):c.6905T>C (p.Leu2302Pro) rs1131691267
NM_000267.3(NF1):c.6907C>T (p.Gln2303Ter) rs1131691073
NM_000267.3(NF1):c.695C>T (p.Thr232Ile) rs769719064
NM_000267.3(NF1):c.6963G>A (p.Leu2321=) rs371581213
NM_000267.3(NF1):c.6964C>T (p.His2322Tyr) rs781578248
NM_000267.3(NF1):c.696A>G (p.Thr232=) rs368691517
NM_000267.3(NF1):c.6971T>G (p.Leu2324Ter) rs1555535195
NM_000267.3(NF1):c.6982C>T (p.Arg2328Cys) rs56013763
NM_000267.3(NF1):c.7000-328_7000-327insA
NM_000267.3(NF1):c.7028G>A (p.Arg2343Gln) rs1555535407
NM_000267.3(NF1):c.702G>A (p.Leu234=) rs1801052
NM_000267.3(NF1):c.7090_7095AACTTT[1] (p.2364_2365NF[1]) rs864622639
NM_000267.3(NF1):c.7095T>C (p.Phe2365=) rs876660271
NM_000267.3(NF1):c.7107G>A (p.Leu2369=) rs751081026
NM_000267.3(NF1):c.7126+37C>G rs7405740
NM_000267.3(NF1):c.7127-167T>A
NM_000267.3(NF1):c.7127-260T>G
NM_000267.3(NF1):c.7127-33TTGT[4] rs149197458
NM_000267.3(NF1):c.7128G>A (p.Gly2376=) rs773474652
NM_000267.3(NF1):c.7130A>G (p.Tyr2377Cys) rs1567623401
NM_000267.3(NF1):c.7193_7194del (p.Leu2398fs) rs1555536027
NM_000267.3(NF1):c.7204_7205CA[1] (p.His2402fs) rs878853913
NM_000267.3(NF1):c.7211del (p.Asn2404fs) rs1555536030
NM_000267.3(NF1):c.7221A>G (p.Lys2407=) rs1555536034
NM_000267.3(NF1):c.722_730delATATGGCTG rs1567826158
NM_000267.3(NF1):c.724dup (p.Met242fs) rs1555608763
NM_000267.3(NF1):c.7256_7258delCAG rs1085307506
NM_000267.3(NF1):c.7258+13A>G rs1057523308
NM_000267.3(NF1):c.7259-16A>G rs369168102
NM_000267.3(NF1):c.7259-17C>T rs17884859
NM_000267.3(NF1):c.7260T>G (p.Ala2420=) rs765750009
NM_000267.3(NF1):c.7267_7268insAA (p.Thr2423fs) rs1064794278
NM_000267.3(NF1):c.7267dup (p.Thr2423fs) rs1064794278
NM_000267.3(NF1):c.7281A>G (p.Glu2427=) rs374234848
NM_000267.3(NF1):c.7285C>T (p.Arg2429Ter) rs786202457
NM_000267.3(NF1):c.7291C>T (p.Arg2431Cys) rs377662483
NM_000267.3(NF1):c.730+16dup rs373999174
NM_000267.3(NF1):c.730+1G>A rs1060500274
NM_000267.3(NF1):c.7305A>G (p.Lys2435=) rs201287021
NM_000267.3(NF1):c.7307A>G (p.His2436Arg) rs863224664
NM_000267.3(NF1):c.731-114A>G
NM_000267.3(NF1):c.731-1G>A rs1555608928
NM_000267.3(NF1):c.731-6A>C rs369366499
NM_000267.3(NF1):c.7333A>G (p.Ile2445Val) rs748027595
NM_000267.3(NF1):c.734G>T (p.Cys245Phe) rs587781869
NM_000267.3(NF1):c.7363T>C (p.Tyr2455His) rs864622745
NM_000267.3(NF1):c.7394+21A>G
NM_000267.3(NF1):c.7394+5G>A rs1555536171
NM_000267.3(NF1):c.7395-29G>A rs964288
NM_000267.3(NF1):c.7395-3C>G rs1158267419
NM_000267.3(NF1):c.7395-7C>T rs758106590
NM_000267.3(NF1):c.7398A>G (p.Thr2466=) rs149924365
NM_000267.3(NF1):c.7416A>G (p.Pro2472=) rs144957306
NM_000267.3(NF1):c.7421C>T (p.Ser2474Phe) rs757245615
NM_000267.3(NF1):c.7457C>T (p.Thr2486Ile) rs149055633
NM_000267.3(NF1):c.7468G>C (p.Val2490Leu) rs2230850
NM_000267.3(NF1):c.7486C>T (p.Arg2496Ter) rs866445127
NM_000267.3(NF1):c.7491C>G (p.Ala2497=) rs141897690
NM_000267.3(NF1):c.7514dup (p.Met2505fs) rs1555536367
NM_000267.3(NF1):c.7521A>G (p.Gln2507=) rs55865524
NM_000267.3(NF1):c.7532C>T (p.Ala2511Val) rs148154172
NM_000267.3(NF1):c.7552+1G>T rs1555536380
NM_000267.3(NF1):c.7552+271C>T
NM_000267.3(NF1):c.7553-9T>C rs1555536631
NM_000267.3(NF1):c.7580T>A (p.Ile2527Lys)
NM_000267.3(NF1):c.7630A>G (p.Thr2544Ala) rs786202548
NM_000267.3(NF1):c.7675+46G>A rs199641099
NM_000267.3(NF1):c.7692C>T (p.Ser2564=) rs17881980
NM_000267.3(NF1):c.7695A>C (p.Ser2565=) rs876658564
NM_000267.3(NF1):c.7709del (p.Pro2570fs) rs1064795136
NM_000267.3(NF1):c.7718G>A (p.Arg2573His) rs774781617
NM_000267.3(NF1):c.7761A>T (p.Glu2587Asp) rs1567626984
NM_000267.3(NF1):c.7762G>A (p.Val2588Ile) rs786203848
NM_000267.3(NF1):c.7762G>C (p.Val2588Leu) rs786203848
NM_000267.3(NF1):c.7775C>T (p.Pro2592Leu) rs750972729
NM_000267.3(NF1):c.7778A>G (p.Lys2593Arg) rs587781502
NM_000267.3(NF1):c.7804C>G (p.Leu2602Val) rs1555536721
NM_000267.3(NF1):c.7806+1G>A rs1329683225
NM_000267.3(NF1):c.7806+5G>C rs1555536725
NM_000267.3(NF1):c.7807-13dup rs369360556
NM_000267.3(NF1):c.7846C>T (p.Arg2616Ter) rs786201367
NM_000267.3(NF1):c.7847G>A (p.Arg2616Gln) rs560262404
NM_000267.3(NF1):c.7852C>G (p.Leu2618Val) rs1057518362
NM_000267.3(NF1):c.7900C>T (p.Pro2634Ser) rs587781791
NM_000267.3(NF1):c.7907+166C>T
NM_000267.3(NF1):c.7907+4_7907+7delAGTA rs1064794279
NM_000267.3(NF1):c.7907+5G>T rs1567627286
NM_000267.3(NF1):c.7908-19G>T rs17887156
NM_000267.3(NF1):c.7908-348A>G
NM_000267.3(NF1):c.7908-8delT rs564545012
NM_000267.3(NF1):c.7923C>T (p.Asp2641=) rs876658550
NM_000267.3(NF1):c.7968G>A (p.Leu2656=) rs1555536905
NM_000267.3(NF1):c.7978A>G (p.Ile2660Val) rs146315101
NM_000267.3(NF1):c.801G>A (p.Trp267Ter) rs1064794273
NM_000267.3(NF1):c.8042A>T (p.Tyr2681Phe) rs201824349
NM_000267.3(NF1):c.8050+20G>A rs55747230
NM_000267.3(NF1):c.8050+21delA rs563852879
NM_000267.3(NF1):c.8076G>A (p.Arg2692=) rs139527415
NM_000267.3(NF1):c.8087C>T (p.Pro2696Leu) rs778799019
NM_000267.3(NF1):c.8088G>A (p.Pro2696=) rs2285895
NM_000267.3(NF1):c.8120C>T (p.Ala2707Val) rs760973918
NM_000267.3(NF1):c.8153T>C (p.Ile2718Thr) rs752541243
NM_000267.3(NF1):c.8314+20A>G rs201289884
NM_000267.3(NF1):c.8315-215T>A
NM_000267.3(NF1):c.8315-9T>C rs1453787016
NM_000267.3(NF1):c.8331C>T (p.Asn2777=) rs376136174
NM_000267.3(NF1):c.8332G>A (p.Val2778Ile) rs377393842
NM_000267.3(NF1):c.8388C>T (p.Ser2796=) rs547090599
NM_000267.3(NF1):c.8414G>C (p.Ser2805Thr) rs1057523477
NM_000267.3(NF1):c.8427C>A (p.Phe2809Leu) rs760550772
NM_000267.3(NF1):c.8436T>C (p.Asn2812=) rs142636150
NM_000267.3(NF1):c.846G>A (p.Gln282=) rs138840528
NM_000267.3(NF1):c.861C>T (p.Asp287=) rs749949219
NM_000267.3(NF1):c.872A>C (p.Glu291Ala) rs876660171
NM_000267.3(NF1):c.888+108C>T
NM_000267.3(NF1):c.888+118G>T
NM_000267.3(NF1):c.888+263C>T
NM_000267.3(NF1):c.889-192G>T
NM_000267.3(NF1):c.898C>T (p.Leu300=) rs786201926
NM_000267.3(NF1):c.910C>T (p.Arg304Ter) rs786203950
NM_000267.3(NF1):c.923C>G (p.Ala308Gly) rs876660836
NM_000267.3(NF1):c.950_953dup (p.Glu318fs) rs1555610879
NM_000267.3(NF1):c.989C>T (p.Ala330Val) rs1555610898
NM_001042492.2(NF1):c.4120C>T (p.His1374Tyr) rs764123241
NM_001042492.2(NF1):c.5813-5dup rs775451791
NM_001042492.2(NF1):c.6922-14_6922-13delAT rs146785663
NM_001042492.2(NF1):c.7189+8dup rs753952604
NM_001042492.2(NF1):c.7190-5delT rs769290414
NM_001042492.2(NF1):c.7321+19_7321+22delCAAA rs528866152

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