ClinVar Miner

List of variants in gene NF1 reported by CeGaT Center for Human Genetics Tuebingen

Minimum submission review status: Collection method:
Minimum conflict level:
Gene type:
ClinVar version:
Total variants: 318
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HGVS dbSNP gnomAD frequency
NM_001042492.3(NF1):c.4929G>A (p.Val1643=) rs17880521 0.01527
NM_001042492.3(NF1):c.7322-17C>T rs17884859 0.00744
NM_001042492.3(NF1):c.2985G>C (p.Leu995=) rs17881467 0.00426
NM_001042492.3(NF1):c.528T>A (p.Asp176Glu) rs112306990 0.00398
NM_001042492.3(NF1):c.3198-4T>C rs587782218 0.00387
NM_001042492.3(NF1):c.2252-31A>T rs141082540 0.00355
NM_001042492.3(NF1):c.6148-30T>A rs199874130 0.00348
NM_001042492.3(NF1):c.340C>T (p.Leu114=) rs7207410 0.00309
NM_001042492.3(NF1):c.5235G>A (p.Lys1745=) rs17887014 0.00305
NM_001042492.3(NF1):c.4269A>G (p.Glu1423=) rs17886566 0.00238
NM_001042492.3(NF1):c.1994C>T (p.Ser665Phe) rs145891889 0.00220
NM_001042492.3(NF1):c.5035A>G (p.Ile1679Val) rs147327414 0.00195
NM_001042492.3(NF1):c.2553C>T (p.Cys851=) rs2230852 0.00190
NM_001042492.3(NF1):c.*126G>A rs184715593 0.00185
NM_001042492.3(NF1):c.*582T>G rs532984264 0.00169
NM_001042492.3(NF1):c.7584A>G (p.Gln2528=) rs55865524 0.00127
NM_001042492.3(NF1):c.4577+11C>G rs190614908 0.00124
NM_001042492.3(NF1):c.1810T>C (p.Leu604=) rs142712751 0.00123
NM_001042492.3(NF1):c.*1899A>G rs547663480 0.00100
NM_001042492.3(NF1):c.3867C>T (p.Phe1289=) rs138186428 0.00089
NM_001042492.3(NF1):c.8114-70A>T rs192112633 0.00088
NM_001042492.3(NF1):c.3468C>T (p.Asn1156=) rs147955381 0.00083
NM_001042492.3(NF1):c.3270A>C (p.Gly1090=) rs150015024 0.00079
NM_001042492.3(NF1):c.7595C>T (p.Ala2532Val) rs148154172 0.00066
NM_001042492.3(NF1):c.2033C>T (p.Pro678Leu) rs17881753 0.00058
NM_001042492.3(NF1):c.7461A>G (p.Thr2487=) rs149924365 0.00052
NM_001042492.3(NF1):c.888+664T>G rs139513375 0.00049
NM_001042492.3(NF1):c.731-6A>C rs369366499 0.00037
NM_001042492.3(NF1):c.1137C>T (p.Cys379=) rs139648455 0.00031
NM_001042492.3(NF1):c.*871A>T rs568276164 0.00028
NM_001042492.3(NF1):c.7998C>T (p.Asn2666=) rs747307832 0.00024
NM_001042492.3(NF1):c.1062+113A>G rs868553650 0.00021
NM_001042492.3(NF1):c.8499T>C (p.Asn2833=) rs142636150 0.00020
NM_001042492.3(NF1):c.1032A>G (p.Leu344=) rs199832006 0.00019
NM_001042492.3(NF1):c.4749A>G (p.Glu1583=) rs144091165 0.00019
NM_001042492.3(NF1):c.6172A>G (p.Ile2058Val) rs201712827 0.00017
NM_001042492.3(NF1):c.107C>G (p.Thr36Ser) rs199966218 0.00015
NM_001042492.3(NF1):c.6929C>T (p.Pro2310Leu) rs148736217 0.00015
NM_001042492.3(NF1):c.2133C>T (p.Arg711=) rs148085908 0.00014
NM_001042492.3(NF1):c.7368A>G (p.Lys2456=) rs201287021 0.00014
NM_001042492.3(NF1):c.7026G>A (p.Leu2342=) rs371581213 0.00013
NM_001042492.3(NF1):c.5049C>T (p.Asn1683=) rs140994965 0.00012
NM_001042492.3(NF1):c.4836-3T>C rs372460369 0.00009
NM_001042492.3(NF1):c.5513C>G (p.Ser1838Cys) rs368654378 0.00009
NM_001042492.3(NF1):c.5757G>A (p.Glu1919=) rs141077224 0.00009
NM_001042492.3(NF1):c.6171A>T (p.Ile2057=) rs140733963 0.00008
NM_001042492.3(NF1):c.3636C>A (p.Val1212=) rs145126193 0.00007
NM_001042492.3(NF1):c.6033A>G (p.Leu2011=) rs147995863 0.00006
NM_001042492.3(NF1):c.2188A>T (p.Asn730Tyr) rs758893131 0.00005
NM_001042492.3(NF1):c.61-16301G>A rs1251741983 0.00005
NM_001042492.3(NF1):c.6315C>T (p.His2105=) rs145732909 0.00005
NM_001042492.3(NF1):c.4111-4G>A rs764877783 0.00004
NM_001042492.3(NF1):c.6664A>G (p.Thr2222Ala) rs745945481 0.00004
NM_001042492.3(NF1):c.1296G>A (p.Val432=) rs371599283 0.00003
NM_001042492.3(NF1):c.1308G>A (p.Ser436=) rs765425127 0.00003
NM_001042492.3(NF1):c.169G>A (p.Gly57Ser) rs779727341 0.00003
NM_001042492.3(NF1):c.1975C>T (p.Arg659Trp) rs757512142 0.00003
NM_001042492.3(NF1):c.2585C>G (p.Thr862Ser) rs200302954 0.00003
NM_001042492.3(NF1):c.5910A>G (p.Arg1970=) rs777021090 0.00003
NM_001042492.3(NF1):c.696A>G (p.Thr232=) rs368691517 0.00003
NM_001042492.3(NF1):c.2294G>A (p.Arg765His) rs199474777 0.00002
NM_001042492.3(NF1):c.4357G>A (p.Val1453Ile) rs199474755 0.00002
NM_001042492.3(NF1):c.4668T>C (p.Asp1556=) rs763874870 0.00002
NM_001042492.3(NF1):c.6819+11C>T rs201213225 0.00002
NM_001042492.3(NF1):c.847G>T (p.Asp283Tyr) rs200572531 0.00002
NM_001042492.3(NF1):c.1138C>T (p.Leu380Phe) rs1426127948 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.2019C>T (p.Cys673=) rs146624509 0.00001
NM_001042492.3(NF1):c.2248A>G (p.Thr750Ala) rs748064845 0.00001
NM_001042492.3(NF1):c.2573C>G (p.Ser858Cys) rs369493270 0.00001
NM_001042492.3(NF1):c.2622G>A (p.Lys874=) rs77917884 0.00001
NM_001042492.3(NF1):c.2640G>A (p.Val880=) rs786202443 0.00001
NM_001042492.3(NF1):c.3197+3A>G rs1359512152 0.00001
NM_001042492.3(NF1):c.354C>T (p.Cys118=) rs768777585 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.4187G>A (p.Arg1396His) rs368685980 0.00001
NM_001042492.3(NF1):c.4382T>C (p.Met1461Thr) rs754639587 0.00001
NM_001042492.3(NF1):c.4600C>T (p.Arg1534Ter) rs760703505 0.00001
NM_001042492.3(NF1):c.4944C>T (p.Thr1648=) rs759291615 0.00001
NM_001042492.3(NF1):c.5116C>T (p.Leu1706Phe) rs769087878 0.00001
NM_001042492.3(NF1):c.5357C>T (p.Ser1786Leu) rs1555533569 0.00001
NM_001042492.3(NF1):c.5488C>T (p.Arg1830Cys) rs797045139 0.00001
NM_001042492.3(NF1):c.5745G>T (p.Leu1915=) rs1234091349 0.00001
NM_001042492.3(NF1):c.574C>T (p.Arg192Ter) rs397514641 0.00001
NM_001042492.3(NF1):c.5769G>A (p.Thr1923=) rs780145472 0.00001
NM_001042492.3(NF1):c.584A>G (p.Lys195Arg) rs587778552 0.00001
NM_001042492.3(NF1):c.6006G>A (p.Gln2002=) rs1555534432 0.00001
NM_001042492.3(NF1):c.6855C>G (p.Tyr2285Ter) rs772295894 0.00001
NM_001042492.3(NF1):c.7005C>T (p.Thr2335=) rs2040793 0.00001
NM_001042492.3(NF1):c.7110C>T (p.His2370=) rs201881479 0.00001
NM_001042492.3(NF1):c.7191G>A (p.Gly2397=) rs773474652 0.00001
NM_001042492.3(NF1):c.7432A>G (p.Ile2478Val) rs759307070 0.00001
NM_001042492.3(NF1):c.7449T>C (p.Pro2483=) rs878853916 0.00001
NM_001042492.3(NF1):c.7971-7C>A rs754359027 0.00001
NM_001042492.3(NF1):c.8091A>G (p.Gln2697=) rs760433938 0.00001
NM_001042492.3(NF1):c.8451C>T (p.Ser2817=) rs547090599 0.00001
NM_001042492.3(NF1):c.8478C>T (p.Ser2826=) rs770148738 0.00001
GRCh37/hg19 17q11.2(chr17:29422328-29422387)x1
GRCh37/hg19 17q11.2(chr17:29490394-29509683)x3
GRCh37/hg19 17q11.2(chr17:29576002-29576137)x3
GRCh37/hg19 17q11.2(chr17:29679275-29679432)x1
NC_000017.11:g.31378926C>T
NC_000017.11:g.31379000_31379017del
NC_000017.11:g.31379017T>C
NC_000017.11:g.31379024G>A
NM_001042492.3(NF1):c.*3514G>A rs574282086
NM_001042492.3(NF1):c.*585G>T rs372804411
NM_001042492.3(NF1):c.*879del
NM_001042492.3(NF1):c.1079dup (p.Ser361fs) rs2143878590
NM_001042492.3(NF1):c.1091del (p.Phe364fs) rs2066519253
NM_001042492.3(NF1):c.1182dup (p.Lys395Ter) rs1597682159
NM_001042492.3(NF1):c.1185+1G>A rs864622161
NM_001042492.3(NF1):c.1186-13del rs763903212
NM_001042492.3(NF1):c.1230G>A (p.Leu410=) rs1168457824
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+5G>A rs1060500253
NM_001042492.3(NF1):c.1278G>A (p.Trp426Ter) rs1131691085
NM_001042492.3(NF1):c.1362_1364del (p.Cys454_Gly455delinsTer) rs2143915068
NM_001042492.3(NF1):c.1381C>T (p.Arg461Ter) rs878853865
NM_001042492.3(NF1):c.1484_1485insA (p.Met496fs)
NM_001042492.3(NF1):c.1527+1159C>T rs878853868
NM_001042492.3(NF1):c.1527+1519dup
NM_001042492.3(NF1):c.1527+2dup rs1597698533
NM_001042492.3(NF1):c.1527+5G>T rs1060500352
NM_001042492.3(NF1):c.1528-971G>A
NM_001042492.3(NF1):c.1541A>G (p.Gln514Arg) rs775369084
NM_001042492.3(NF1):c.1584del (p.Leu529fs) rs876658693
NM_001042492.3(NF1):c.1586T>C (p.Leu529Pro)
NM_001042492.3(NF1):c.1641+7G>C rs1060503887
NM_001042492.3(NF1):c.1642-3C>G rs1597706610
NM_001042492.3(NF1):c.1642-449A>G rs863224655
NM_001042492.3(NF1):c.1708_1721del (p.Phe570fs)
NM_001042492.3(NF1):c.170dup (p.Leu58fs)
NM_001042492.3(NF1):c.1721+21dup rs762735676
NM_001042492.3(NF1):c.1751A>G (p.Lys584Arg)
NM_001042492.3(NF1):c.1756_1759del (p.Thr586fs) rs786202782
NM_001042492.3(NF1):c.1771C>G (p.Leu591Val) rs767247726
NM_001042492.3(NF1):c.1797G>A (p.Trp599Ter) rs1567845906
NM_001042492.3(NF1):c.1885G>A (p.Gly629Arg) rs199474738
NM_001042492.3(NF1):c.2002-2A>C rs1555613741
NM_001042492.3(NF1):c.2033dup (p.Ile679fs) rs587781807
NM_001042492.3(NF1):c.205-1G>C rs1555605362
NM_001042492.3(NF1):c.2072T>G (p.Leu691Arg) rs1131691132
NM_001042492.3(NF1):c.2125T>C (p.Cys709Arg) rs1131691095
NM_001042492.3(NF1):c.2169G>A (p.Val723=) rs2151425959
NM_001042492.3(NF1):c.2219del (p.Glu740fs) rs2151426094
NM_001042492.3(NF1):c.2284C>T (p.Leu762=) rs370762336
NM_001042492.3(NF1):c.2288T>C (p.Leu763Pro) rs199474762
NM_001042492.3(NF1):c.2293del (p.Arg765fs) rs1597713360
NM_001042492.3(NF1):c.2324A>G (p.Glu775Gly)
NM_001042492.3(NF1):c.2325+1G>A rs1555613933
NM_001042492.3(NF1):c.2325+4T>C rs1555613934
NM_001042492.3(NF1):c.2328T>G (p.Ala776=) rs1555613978
NM_001042492.3(NF1):c.2329T>C (p.Trp777Arg) rs876658853
NM_001042492.3(NF1):c.2358A>G (p.Gln786=) rs762346437
NM_001042492.3(NF1):c.2389del (p.Ala797fs) rs1555614016
NM_001042492.3(NF1):c.2409+2T>G rs876660826
NM_001042492.3(NF1):c.2410-16A>G rs1567848704
NM_001042492.3(NF1):c.2446C>T (p.Arg816Ter) rs886041347
NM_001042492.3(NF1):c.2452del (p.Ser818fs) rs2067065066
NM_001042492.3(NF1):c.246_248delinsG (p.Gln83fs) rs2143646085
NM_001042492.3(NF1):c.249del (p.Gln83fs)
NM_001042492.3(NF1):c.2537C>A (p.Ala846Asp) rs1555614229
NM_001042492.3(NF1):c.2544G>C (p.Gly848=) rs17883704
NM_001042492.3(NF1):c.2786T>C (p.Leu929Pro) rs1555614338
NM_001042492.3(NF1):c.2892dup (p.Ile965fs) rs2067083389
NM_001042492.3(NF1):c.2970_2972del (p.Met992del) rs267606606
NM_001042492.3(NF1):c.2978T>G (p.Leu993Ter) rs1555614460
NM_001042492.3(NF1):c.3025A>G (p.Ile1009Val) rs1597716866
NM_001042492.3(NF1):c.3081T>C (p.Asp1027=) rs1555614532
NM_001042492.3(NF1):c.3088_3089dup (p.Phe1031fs) rs2067092561
NM_001042492.3(NF1):c.3113+4A>C
NM_001042492.3(NF1):c.3183_3187del (p.Lys1062fs)
NM_001042492.3(NF1):c.3197+3A>T rs1359512152
NM_001042492.3(NF1):c.3198-12_3198-4del
NM_001042492.3(NF1):c.3198-3C>A rs777759972
NM_001042492.3(NF1):c.3250C>G (p.Pro1084Ala) rs1555614848
NM_001042492.3(NF1):c.3375G>A (p.Ala1125=) rs112589561
NM_001042492.3(NF1):c.3445A>G (p.Met1149Val) rs1187097568
NM_001042492.3(NF1):c.3457_3460del (p.Leu1153fs) rs1321848637
NM_001042492.3(NF1):c.3525_3526del (p.Arg1176fs) rs1131691092
NM_001042492.3(NF1):c.3708+3_3708+6del rs2151435840
NM_001042492.3(NF1):c.3708G>A (p.Trp1236Ter) rs2067145586
NM_001042492.3(NF1):c.3709-984C>T
NM_001042492.3(NF1):c.3755delinsAG (p.Leu1252Ter)
NM_001042492.3(NF1):c.3756A>G (p.Leu1252=) rs1298630862
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.3831C>T (p.Gly1277=) rs1597722611
NM_001042492.3(NF1):c.3841G>A (p.Ala1281Thr) rs2151438011
NM_001042492.3(NF1):c.3884C>T (p.Thr1295Ile) rs2151438517
NM_001042492.3(NF1):c.3888T>G (p.Tyr1296Ter) rs2151438526
NM_001042492.3(NF1):c.3916C>T (p.Arg1306Ter) rs376576925
NM_001042492.3(NF1):c.3974+1G>A rs1567852849
NM_001042492.3(NF1):c.3974+260T>G rs1567853044
NM_001042492.3(NF1):c.3974+34_3974+35dup
NM_001042492.3(NF1):c.3986C>G (p.Ser1329Ter) rs1060500319
NM_001042492.3(NF1):c.4016T>G (p.Leu1339Arg) rs1567858306
NM_001042492.3(NF1):c.4062C>T (p.Ser1354=) rs1597735169
NM_001042492.3(NF1):c.4072C>T (p.Pro1358Ser) rs1555617359
NM_001042492.3(NF1):c.4076dup (p.Gln1360fs) rs1135402852
NM_001042492.3(NF1):c.4109del (p.Gln1370fs) rs2151451681
NM_001042492.3(NF1):c.4174-8_4174-6del rs751729752
NM_001042492.3(NF1):c.4247C>T (p.Pro1416Leu) rs1555618521
NM_001042492.3(NF1):c.4332+22_4332+25del rs768273651
NM_001042492.3(NF1):c.4338del (p.Gln1447fs) rs2067635690
NM_001042492.3(NF1):c.4372G>T (p.Glu1458Ter) rs1135402858
NM_001042492.3(NF1):c.4405A>T (p.Lys1469Ter) rs1567862353
NM_001042492.3(NF1):c.4406_4418del (p.Lys1469fs) rs1567862349
NM_001042492.3(NF1):c.4430+1G>A rs773151680
NM_001042492.3(NF1):c.4449A>G (p.Ala1483=) rs1237298231
NM_001042492.3(NF1):c.4536G>A (p.Trp1512Ter) rs878853897
NM_001042492.3(NF1):c.4578-31_4578-30insAGGGAAA
NM_001042492.3(NF1):c.4647A>G (p.Pro1549=) rs1305841472
NM_001042492.3(NF1):c.4725-1G>A rs1555619391
NM_001042492.3(NF1):c.4760T>A (p.Leu1587Ter)
NM_001042492.3(NF1):c.476C>T (p.Thr159Ile)
NM_001042492.3(NF1):c.4778del (p.Phe1593fs) rs2067765927
NM_001042492.3(NF1):c.4791dup (p.Thr1598fs) rs1253123816
NM_001042492.3(NF1):c.4796C>A (p.Ser1599Tyr) rs1555619407
NM_001042492.3(NF1):c.4831C>T (p.Arg1611Trp) rs1060500316
NM_001042492.3(NF1):c.4836-11382_4836-11381del
NM_001042492.3(NF1):c.4934T>G (p.Leu1645Arg) rs1555533305
NM_001042492.3(NF1):c.4998del (p.Pro1667fs) rs1135402867
NM_001042492.3(NF1):c.5013C>G (p.Tyr1671Ter) rs1060500255
NM_001042492.3(NF1):c.5033A>C (p.Tyr1678Ser) rs1555533347
NM_001042492.3(NF1):c.5126_5127delinsG (p.Ile1709fs)
NM_001042492.3(NF1):c.5169A>G (p.Gln1723=) rs864622372
NM_001042492.3(NF1):c.5305C>T (p.Arg1769Ter) rs876657714
NM_001042492.3(NF1):c.5314G>C (p.Val1772Leu) rs1567612377
NM_001042492.3(NF1):c.5325A>G (p.Gln1775=) rs2069376896
NM_001042492.3(NF1):c.5356del (p.Ser1786fs)
NM_001042492.3(NF1):c.5397C>T (p.Phe1799=) rs878853901
NM_001042492.3(NF1):c.539dup (p.Leu180fs)
NM_001042492.3(NF1):c.541C>T (p.Gln181Ter) rs753529924
NM_001042492.3(NF1):c.5469dup (p.Ile1824fs) rs267606605
NM_001042492.3(NF1):c.5480T>C (p.Ile1827Thr) rs1555533605
NM_001042492.3(NF1):c.5498T>C (p.Leu1833Pro) rs2151541565
NM_001042492.3(NF1):c.549C>A (p.Ile183=)
NM_001042492.3(NF1):c.5503_5530dup (p.Lys1844fs) rs2151541577
NM_001042492.3(NF1):c.5552C>A (p.Pro1851His)
NM_001042492.3(NF1):c.5577dup (p.Leu1860fs) rs2151541844
NM_001042492.3(NF1):c.5606T>G (p.Leu1869Ter) rs1597832482
NM_001042492.3(NF1):c.5625TCT[1] (p.Leu1877del) rs1131691081
NM_001042492.3(NF1):c.5668_5669delinsTT (p.Gly1890Phe)
NM_001042492.3(NF1):c.5680_5683del (p.Glu1894fs)
NM_001042492.3(NF1):c.5787G>T (p.Glu1929Asp) rs786202591
NM_001042492.3(NF1):c.5813-43A>G
NM_001042492.3(NF1):c.587-3C>A rs375188075
NM_001042492.3(NF1):c.5902C>T (p.Arg1968Ter) rs137854552
NM_001042492.3(NF1):c.5919T>C (p.Ala1973=) rs876659706
NM_001042492.3(NF1):c.5924T>C (p.Leu1975Pro) rs1555534411
NM_001042492.3(NF1):c.5961_5962del (p.Gln1987fs)
NM_001042492.3(NF1):c.6002G>C (p.Gly2001Ala)
NM_001042492.3(NF1):c.6006+2T>G rs1258498548
NM_001042492.3(NF1):c.61-1G>C
NM_001042492.3(NF1):c.61-4del rs551568608
NM_001042492.3(NF1):c.61-4dup rs551568608
NM_001042492.3(NF1):c.6147+8C>G rs182709912
NM_001042492.3(NF1):c.6148-27A>T
NM_001042492.3(NF1):c.6148-30_6148-28del
NM_001042492.3(NF1):c.6427+8C>A rs864622598
NM_001042492.3(NF1):c.6428-11T>G rs2151555896
NM_001042492.3(NF1):c.647T>G (p.Leu216Arg) rs199474756
NM_001042492.3(NF1):c.655-35A>C
NM_001042492.3(NF1):c.6556_6557del (p.Ser2186fs) rs2069706454
NM_001042492.3(NF1):c.6643-1_6643delinsTT rs2151557372
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.6704+1del rs1597844692
NM_001042492.3(NF1):c.6772C>T (p.Arg2258Ter) rs876658541
NM_001042492.3(NF1):c.6777G>A (p.Val2259=) rs1281405147
NM_001042492.3(NF1):c.6798del (p.Gln2266_Ile2267insTer) rs2069727438
NM_001042492.3(NF1):c.6855C>A (p.Tyr2285Ter) rs772295894
NM_001042492.3(NF1):c.6871A>C (p.Ile2291Leu) rs876659722
NM_001042492.3(NF1):c.6904C>T (p.Gln2302Ter) rs1057518807
NM_001042492.3(NF1):c.6921+6T>G rs368541645
NM_001042492.3(NF1):c.6922-14_6922-13del rs146785663
NM_001042492.3(NF1):c.6922-2A>T rs864622509
NM_001042492.3(NF1):c.6953_6955dup (p.Val2318_Ala2319insVal)
NM_001042492.3(NF1):c.7072G>A (p.Glu2358Lys) rs2069865899
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.7190-33TTGT[3] rs149197458
NM_001042492.3(NF1):c.7190-33TTGT[7] rs149197458
NM_001042492.3(NF1):c.7190-8T>G rs2070072794
NM_001042492.3(NF1):c.7246C>T (p.Leu2416=) rs786201310
NM_001042492.3(NF1):c.7256T>G (p.Leu2419Arg) rs2070075780
NM_001042492.3(NF1):c.730G>A (p.Glu244Lys) rs1567826188
NM_001042492.3(NF1):c.731-2A>G rs1555608924
NM_001042492.3(NF1):c.7387C>G (p.Leu2463Val) rs2070105859
NM_001042492.3(NF1):c.7415C>G (p.Pro2472Arg) rs786202184
NM_001042492.3(NF1):c.7447C>T (p.Pro2483Ser) rs1291550449
NM_001042492.3(NF1):c.7453dup (p.Tyr2485fs) rs2070108811
NM_001042492.3(NF1):c.7549C>T (p.Arg2517Ter) rs866445127
NM_001042492.3(NF1):c.7599C>T (p.Asn2533=) rs1597862269
NM_001042492.3(NF1):c.7602dup (p.Lys2535Ter) rs2070172428
NM_001042492.3(NF1):c.7614del (p.Gly2539fs) rs2070173038
NM_001042492.3(NF1):c.7728T>C (p.Asp2576=) rs876658892
NM_001042492.3(NF1):c.7747_7748del (p.Arg2583fs) rs1135402907
NM_001042492.3(NF1):c.7822dup (p.Glu2608fs)
NM_001042492.3(NF1):c.7883_7884dup (p.Tyr2629fs)
NM_001042492.3(NF1):c.7909C>T (p.Arg2637Ter) rs786201367
NM_001042492.3(NF1):c.7971-8del rs564545012
NM_001042492.3(NF1):c.79C>T (p.Gln27Ter) rs1060500363
NM_001042492.3(NF1):c.8104T>C (p.Tyr2702His)
NM_001042492.3(NF1):c.8139_8143del (p.Phe2714fs)
NM_001042492.3(NF1):c.8222C>T (p.Thr2741Met) rs144178015
NM_001042492.3(NF1):c.8367G>A (p.Gln2789=) rs786201780
NM_001042492.3(NF1):c.8382C>T (p.Ile2794=) rs1060503890
NM_001042492.3(NF1):c.888+101C>T
NM_001042492.3(NF1):c.888+789A>G rs1597660974
NM_001042492.3(NF1):c.889-948T>C
NM_001042492.3(NF1):c.955A>G (p.Ser319Gly)
NM_001042492.3(NF1):c.978dup (p.Leu327fs) rs2066507887

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