ClinVar Miner

List of variants in gene NF1 reported by Genome Diagnostics Laboratory, The Hospital for Sick Children

Minimum submission review status: Collection method:
Minimum conflict level:
Gene type:
ClinVar version:
Total variants: 390
Download table as spreadsheet
HGVS dbSNP gnomAD frequency
NM_001042492.3(NF1):c.2544G>A (p.Gly848=) rs17883704 0.02390
NM_001042492.3(NF1):c.4882T>C (p.Leu1628=) rs10512435 0.02109
NM_001042492.3(NF1):c.4929G>A (p.Val1643=) rs17880521 0.01527
NM_001042492.3(NF1):c.168C>T (p.Ser56=) rs17881168 0.01374
NM_001042492.3(NF1):c.7755C>T (p.Ser2585=) rs17881980 0.00994
NM_001042492.3(NF1):c.2022C>T (p.Ser674=) rs2230851 0.00908
NM_001042492.3(NF1):c.6393C>T (p.His2131=) rs17881788 0.00655
NM_001042492.3(NF1):c.2985G>C (p.Leu995=) rs17881467 0.00396
NM_001042492.3(NF1):c.3498C>T (p.Gly1166=) rs2066733 0.00392
NM_001042492.3(NF1):c.528T>A (p.Asp176Glu) rs112306990 0.00380
NM_001042492.3(NF1):c.5235G>A (p.Lys1745=) rs17887014 0.00305
NM_001042492.3(NF1):c.340C>T (p.Leu114=) rs7207410 0.00283
NM_001042492.3(NF1):c.846G>A (p.Gln282=) rs138840528 0.00237
NM_001042492.3(NF1):c.1994C>T (p.Ser665Phe) rs145891889 0.00197
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.7531G>C (p.Val2511Leu) rs2230850 0.00189
NM_001042492.3(NF1):c.7584A>G (p.Gln2528=) rs55865524 0.00125
NM_001042492.3(NF1):c.8151G>A (p.Pro2717=) rs2285895 0.00084
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.369C>G (p.Thr123=) rs146691765 0.00037
NM_001042492.3(NF1):c.731-6A>C rs369366499 0.00037
NM_001042492.3(NF1):c.1933A>G (p.Met645Val) rs146051850 0.00032
NM_001042492.3(NF1):c.8041A>G (p.Ile2681Val) rs146315101 0.00029
NM_001042492.3(NF1):c.3436G>A (p.Val1146Ile) rs201047812 0.00015
NM_001042492.3(NF1):c.7368A>G (p.Lys2456=) rs201287021 0.00014
NM_001042492.3(NF1):c.5049C>T (p.Asn1683=) rs140994965 0.00012
NM_001042492.3(NF1):c.1599C>G (p.Val533=) rs369458366 0.00011
NM_001042492.3(NF1):c.2541T>C (p.Leu847=) rs147433258 0.00009
NM_001042492.3(NF1):c.*1A>C rs876658388 0.00005
NM_001042492.3(NF1):c.4445T>C (p.Ile1482Thr) rs746994734 0.00004
NM_001042492.3(NF1):c.5812+8A>G rs372075322 0.00004
NM_001042492.3(NF1):c.*4T>C rs201044568 0.00003
NM_001042492.3(NF1):c.3871-4G>C rs558421445 0.00002
NM_001042492.3(NF1):c.4668T>C (p.Asp1556=) rs763874870 0.00002
NM_001042492.3(NF1):c.1241T>G (p.Leu414Arg) rs1334926587 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.1921A>G (p.Ser641Gly) rs769154907 0.00001
NM_001042492.3(NF1):c.2041C>T (p.Arg681Ter) rs768638173 0.00001
NM_001042492.3(NF1):c.2061A>G (p.Leu687=) rs143671377 0.00001
NM_001042492.3(NF1):c.2350T>C (p.Trp784Arg) rs199474730 0.00001
NM_001042492.3(NF1):c.3827G>A (p.Arg1276Gln) rs137854556 0.00001
NM_001042492.3(NF1):c.3975-4G>A rs760207624 0.00001
NM_001042492.3(NF1):c.4000G>A (p.Glu1334Lys) rs878853892 0.00001
NM_001042492.3(NF1):c.4460C>T (p.Pro1487Leu) rs2067663223 0.00001
NM_001042492.3(NF1):c.4507A>C (p.Asn1503His) rs1555618837 0.00001
NM_001042492.3(NF1):c.4508A>G (p.Asn1503Ser) rs587781445 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.575G>A (p.Arg192Gln) rs587781670 0.00001
NM_001042492.3(NF1):c.6378C>T (p.Val2126=) rs760941036 0.00001
NM_001042492.3(NF1):c.6586A>G (p.Thr2196Ala) rs372169109 0.00001
NM_001042492.3(NF1):c.6674G>A (p.Trp2225Ter) rs1193716348 0.00001
NM_001042492.3(NF1):c.7298C>T (p.Thr2433Ile) rs755749772 0.00001
NM_001042492.3(NF1):c.8386A>C (p.Lys2796Gln) rs1383658117 0.00001
NM_001042492.3(NF1):c.91C>T (p.His31Tyr) rs786202864 0.00001
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.1039C>T (p.Gln347Ter) rs1555610910
NM_001042492.3(NF1):c.1062+2del rs2066510443
NM_001042492.3(NF1):c.1073_1074insA (p.Phe358fs) rs1555610971
NM_001042492.3(NF1):c.108_111dup (p.His38Ter) rs2065655815
NM_001042492.3(NF1):c.1129_1136del (p.Ile377fs) rs2066520145
NM_001042492.3(NF1):c.1181_1182dup (p.Lys395fs) rs1597682159
NM_001042492.3(NF1):c.1183_1185+2del rs1555611039
NM_001042492.3(NF1):c.1185+1G>A rs864622161
NM_001042492.3(NF1):c.1185+1G>T rs864622161
NM_001042492.3(NF1):c.1185+5G>A rs1597682182
NM_001042492.3(NF1):c.1185G>A (p.Lys395=) rs1567835847
NM_001042492.3(NF1):c.1246C>T (p.Arg416Ter) rs764079291
NM_001042492.3(NF1):c.1254del (p.Thr419fs) rs761430357
NM_001042492.3(NF1):c.1260+1G>C rs267606603
NM_001042492.3(NF1):c.1260+2T>C rs1555611110
NM_001042492.3(NF1):c.1372_1373delinsG (p.Pro458fs) rs2066622088
NM_001042492.3(NF1):c.1381C>T (p.Arg461Ter) rs878853865
NM_001042492.3(NF1):c.1414del (p.Lys471_Val472insTer) rs2066785835
NM_001042492.3(NF1):c.1440del (p.Lys480fs) rs2066786100
NM_001042492.3(NF1):c.1496T>G (p.Leu499Arg) rs1555612288
NM_001042492.3(NF1):c.1527+1G>A rs1060500331
NM_001042492.3(NF1):c.1527+5G>A rs1060500352
NM_001042492.3(NF1):c.1595T>C (p.Leu532Pro) rs199474737
NM_001042492.3(NF1):c.1607C>A (p.Ser536Ter) rs1555612859
NM_001042492.3(NF1):c.162del (p.Val54_Ile55insTer) rs2065656979
NM_001042492.3(NF1):c.1641+1G>C rs1555612866
NM_001042492.3(NF1):c.1655T>C (p.Leu552Pro) rs1555613193
NM_001042492.3(NF1):c.1722-2A>C rs763983337
NM_001042492.3(NF1):c.1733T>G (p.Leu578Arg) rs199474774
NM_001042492.3(NF1):c.1738del (p.Tyr580fs) rs786204255
NM_001042492.3(NF1):c.1748A>G (p.Lys583Arg) rs199474760
NM_001042492.3(NF1):c.174C>T (p.Leu58=) rs2065657421
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.1882dup (p.Tyr628fs) rs1555613558
NM_001042492.3(NF1):c.1885G>A (p.Gly629Arg) rs199474738
NM_001042492.3(NF1):c.1888del (p.Gly629_Val630insTer) rs1567846670
NM_001042492.3(NF1):c.1895dup (p.Cys632fs) rs2066990906
NM_001042492.3(NF1):c.1896_1912del (p.Cys632fs) rs2066990838
NM_001042492.3(NF1):c.1912G>T (p.Gly638Ter) rs1555613567
NM_001042492.3(NF1):c.1924C>T (p.Gln642Ter) rs2066991605
NM_001042492.3(NF1):c.1931_1934del (p.Ser644fs) rs2066991740
NM_001042492.3(NF1):c.1986del (p.Asn664fs) rs2066993468
NM_001042492.3(NF1):c.1988G>A (p.Gly663Glu) rs2066993661
NM_001042492.3(NF1):c.2026A>C (p.Thr676Pro) rs2067015355
NM_001042492.3(NF1):c.2033dup (p.Ile679fs) rs587781807
NM_001042492.3(NF1):c.204+1G>A rs886039548
NM_001042492.3(NF1):c.204+3_204+6del rs1567814632
NM_001042492.3(NF1):c.2044C>T (p.Gln682Ter) rs1597712392
NM_001042492.3(NF1):c.205-2A>C rs1597629679
NM_001042492.3(NF1):c.2072delinsGGGC (p.Leu691delinsArgAla) rs2067017033
NM_001042492.3(NF1):c.2084T>C (p.Leu695Pro) rs199474761
NM_001042492.3(NF1):c.2250A>G (p.Thr750=) rs876659061
NM_001042492.3(NF1):c.2251+1G>C rs1555613843
NM_001042492.3(NF1):c.2251+1G>T rs1555613843
NM_001042492.3(NF1):c.2252-1G>C rs587781577
NM_001042492.3(NF1):c.2252-2A>G rs1131691105
NM_001042492.3(NF1):c.2325G>A (p.Glu775=) rs1555613932
NM_001042492.3(NF1):c.2326-1G>C rs1567848100
NM_001042492.3(NF1):c.2326-4_2326-1del rs2067037065
NM_001042492.3(NF1):c.2339del (p.Thr780fs) rs2067037681
NM_001042492.3(NF1):c.233del (p.Asn78fs) rs1438566555
NM_001042492.3(NF1):c.2350T>A (p.Trp784Arg) rs199474730
NM_001042492.3(NF1):c.2409+1G>A rs1555614022
NM_001042492.3(NF1):c.2409+1G>C rs1555614022
NM_001042492.3(NF1):c.2446C>T (p.Arg816Ter) rs886041347
NM_001042492.3(NF1):c.2447del (p.Arg816fs) rs2067064931
NM_001042492.3(NF1):c.245C>T (p.Ser82Phe) rs199474729
NM_001042492.3(NF1):c.247C>T (p.Gln83Ter) rs746824139
NM_001042492.3(NF1):c.2531T>C (p.Leu844Pro) rs137854566
NM_001042492.3(NF1):c.2540T>C (p.Leu847Pro) rs199474747
NM_001042492.3(NF1):c.2546del (p.Gly849fs) rs1567848878
NM_001042492.3(NF1):c.2685G>A (p.Met895Ile) rs770295902
NM_001042492.3(NF1):c.2693T>C (p.Leu898Pro) rs199474786
NM_001042492.3(NF1):c.2705del (p.Met902fs) rs2067071786
NM_001042492.3(NF1):c.270_272dup (p.Glu91_Lys92insGlu) rs2065717991
NM_001042492.3(NF1):c.2835del (p.Phe945fs) rs1567849208
NM_001042492.3(NF1):c.2855_2856insG (p.Leu953fs) rs2067082667
NM_001042492.3(NF1):c.288+1del rs1057519370
NM_001042492.3(NF1):c.2894T>A (p.Ile965Lys) rs1555614438
NM_001042492.3(NF1):c.2894_2900del (p.Ile965fs) rs2067083472
NM_001042492.3(NF1):c.2940del (p.Glu981fs) rs2067084312
NM_001042492.3(NF1):c.2989A>G (p.Arg997Gly) rs2067085335
NM_001042492.3(NF1):c.2989A>T (p.Arg997Trp) rs2067085335
NM_001042492.3(NF1):c.2990+1G>C rs1135402836
NM_001042492.3(NF1):c.3007_3020del (p.Gly1003fs) rs2067090473
NM_001042492.3(NF1):c.3009_3018del (p.Asn1004fs) rs2067090561
NM_001042492.3(NF1):c.3063_3067dup (p.Met1023delinsLysTer) rs2067092112
NM_001042492.3(NF1):c.3113+1G>A rs267606599
NM_001042492.3(NF1):c.3114-1G>A rs1555614611
NM_001042492.3(NF1):c.3151G>T (p.Gly1051Ter) rs2067101855
NM_001042492.3(NF1):c.3171A>G (p.Ala1057=) rs2067102269
NM_001042492.3(NF1):c.3186del (p.Lys1062fs) rs1597717672
NM_001042492.3(NF1):c.3196del (p.Arg1066fs) rs2067102964
NM_001042492.3(NF1):c.3198-10_3198-4del rs371047262
NM_001042492.3(NF1):c.3198-11_3198-4del rs371047262
NM_001042492.3(NF1):c.3198-2A>G rs1131691089
NM_001042492.3(NF1):c.3198-4del rs371047262
NM_001042492.3(NF1):c.3198-4dup rs371047262
NM_001042492.3(NF1):c.3198-5_3198-4del rs371047262
NM_001042492.3(NF1):c.3198-5_3198-4dup rs371047262
NM_001042492.3(NF1):c.3198-7_3198-4del rs371047262
NM_001042492.3(NF1):c.3198-8_3198-4del rs371047262
NM_001042492.3(NF1):c.3211G>C (p.Ala1071Pro) rs2067122183
NM_001042492.3(NF1):c.3233C>G (p.Ser1078Ter) rs2067122696
NM_001042492.3(NF1):c.3250C>T (p.Pro1084Ser) rs1555614848
NM_001042492.3(NF1):c.3256C>T (p.Gln1086Ter) rs2067123355
NM_001042492.3(NF1):c.3301_3302del (p.Gln1101fs) rs1555614866
NM_001042492.3(NF1):c.3310C>G (p.Leu1104Val) rs140957113
NM_001042492.3(NF1):c.3347_3350del (p.Asp1116fs) rs2067134697
NM_001042492.3(NF1):c.3362_3365del (p.Glu1121fs) rs2067135200
NM_001042492.3(NF1):c.339dup (p.Leu114fs) rs2065792798
NM_001042492.3(NF1):c.3456dup (p.Leu1153fs) rs1430634618
NM_001042492.3(NF1):c.3457_3460del (p.Leu1153fs) rs1321848637
NM_001042492.3(NF1):c.3460A>G (p.Asn1154Asp) rs2067137878
NM_001042492.3(NF1):c.3497-1G>A rs1555615004
NM_001042492.3(NF1):c.3525_3526del (p.Arg1176fs) rs1131691092
NM_001042492.3(NF1):c.3545T>C (p.Val1182Ala) rs2067142076
NM_001042492.3(NF1):c.3562C>T (p.Gln1188Ter) rs2067142295
NM_001042492.3(NF1):c.3564_3585del (p.Gln1188fs) rs2067142341
NM_001042492.3(NF1):c.3610C>G (p.Arg1204Gly) rs199474732
NM_001042492.3(NF1):c.3639_3641del (p.Met1215del) rs1060500276
NM_001042492.3(NF1):c.3655G>C (p.Gly1219Arg) rs2067144197
NM_001042492.3(NF1):c.3703C>T (p.Gln1235Ter) rs1555615109
NM_001042492.3(NF1):c.3721C>T (p.Arg1241Ter) rs137854562
NM_001042492.3(NF1):c.3736_3737del (p.Leu1246fs) rs2067186293
NM_001042492.3(NF1):c.3739_3742del (p.Phe1247fs) rs1064794276
NM_001042492.3(NF1):c.3818del (p.Thr1273fs) rs2067188459
NM_001042492.3(NF1):c.3822_3823del (p.Phe1275fs) rs1555615472
NM_001042492.3(NF1):c.3826C>T (p.Arg1276Ter) rs199474742
NM_001042492.3(NF1):c.3826del (p.Arg1276fs) rs2067188667
NM_001042492.3(NF1):c.3834C>G (p.Asn1278Lys) rs1135402850
NM_001042492.3(NF1):c.3876T>G (p.Tyr1292Ter) rs2067193414
NM_001042492.3(NF1):c.3911T>G (p.Leu1304Ter) rs761512189
NM_001042492.3(NF1):c.3916C>T (p.Arg1306Ter) rs376576925
NM_001042492.3(NF1):c.3965del (p.Asp1322fs) rs2067195581
NM_001042492.3(NF1):c.3974+1G>C rs1567852849
NM_001042492.3(NF1):c.3975-2A>G rs864622431
NM_001042492.3(NF1):c.3977T>G (p.Leu1326Ter) rs2067447633
NM_001042492.3(NF1):c.4004dup (p.Asn1335fs) rs2067448379
NM_001042492.3(NF1):c.4011G>C (p.Arg1337=) rs2067448681
NM_001042492.3(NF1):c.4016T>C (p.Leu1339Pro) rs1567858306
NM_001042492.3(NF1):c.4018del (p.Leu1340fs) rs2067448975
NM_001042492.3(NF1):c.4038del (p.Phe1347fs) rs2067449493
NM_001042492.3(NF1):c.4076del (p.Pro1359fs) rs1135402852
NM_001042492.3(NF1):c.4084C>T (p.Arg1362Ter) rs137854560
NM_001042492.3(NF1):c.4099_4108dup (p.Gln1370fs) rs2067451446
NM_001042492.3(NF1):c.4110+1G>C rs1555617383
NM_001042492.3(NF1):c.4185dup (p.Arg1396fs) rs2067620305
NM_001042492.3(NF1):c.4193dup (p.Gln1399fs) rs2067620512
NM_001042492.3(NF1):c.4195C>T (p.Gln1399Ter) rs1131691072
NM_001042492.3(NF1):c.4208del (p.Gly1403fs) rs2067621019
NM_001042492.3(NF1):c.4231C>T (p.Leu1411Phe) rs199474789
NM_001042492.3(NF1):c.4235G>C (p.Arg1412Thr) rs1555618516
NM_001042492.3(NF1):c.4331A>G (p.Lys1444Arg) rs199474781
NM_001042492.3(NF1):c.4332+1G>A rs1555618572
NM_001042492.3(NF1):c.4349C>A (p.Ala1450Asp) rs2067636212
NM_001042492.3(NF1):c.4367del (p.Thr1456fs) rs2067637088
NM_001042492.3(NF1):c.4372GAA[1] (p.Glu1459del) rs267606607
NM_001042492.3(NF1):c.4430+1G>A rs773151680
NM_001042492.3(NF1):c.4430G>C (p.Arg1477Thr) rs1060500293
NM_001042492.3(NF1):c.4465A>G (p.Ser1489Gly) rs199474743
NM_001042492.3(NF1):c.4489del (p.Ser1497fs) rs2067664000
NM_001042492.3(NF1):c.4522C>G (p.His1508Asp) rs1393895345
NM_001042492.3(NF1):c.4535G>A (p.Trp1512Ter) rs1267947462
NM_001042492.3(NF1):c.454dup (p.Ala152fs) rs2065795669
NM_001042492.3(NF1):c.4556G>A (p.Gly1519Glu) rs1567863004
NM_001042492.3(NF1):c.4578-8G>C rs375758486
NM_001042492.3(NF1):c.4619_4622delinsAA (p.Ala1540fs) rs2067690116
NM_001042492.3(NF1):c.4639_4640del (p.Gly1547fs) rs2067690686
NM_001042492.3(NF1):c.4676G>A (p.Trp1559Ter) rs2067691658
NM_001042492.3(NF1):c.4747G>T (p.Glu1583Ter) rs2067765099
NM_001042492.3(NF1):c.4753A>T (p.Lys1585Ter) rs2067765257
NM_001042492.3(NF1):c.4770_4771delinsT (p.Leu1590fs) rs2067765761
NM_001042492.3(NF1):c.479+1G>A rs1555606137
NM_001042492.3(NF1):c.4796C>A (p.Ser1599Tyr) rs1555619407
NM_001042492.3(NF1):c.4796C>T (p.Ser1599Phe) rs1555619407
NM_001042492.3(NF1):c.4835+3_4835+10delinsT rs2067767641
NM_001042492.3(NF1):c.4878dup (p.Val1627fs) rs2069326347
NM_001042492.3(NF1):c.4885del (p.Leu1628_Leu1629insTer) rs2069326575
NM_001042492.3(NF1):c.4903_4917dup (p.Tyr1639_Glu1640insTyrAlaLysProTyr) rs2069327013
NM_001042492.3(NF1):c.4944del (p.Pro1650fs) rs2069328472
NM_001042492.3(NF1):c.499_502del (p.Cys167fs) rs786201874
NM_001042492.3(NF1):c.5016del (p.Asp1672fs) rs2069330719
NM_001042492.3(NF1):c.5044T>C (p.Cys1682Arg) rs1597829901
NM_001042492.3(NF1):c.5045_5046del (p.Asn1681_Cys1682insTer) rs1597829906
NM_001042492.3(NF1):c.5055G>A (p.Trp1685Ter) rs1555533354
NM_001042492.3(NF1):c.5236dup (p.Leu1746fs) rs2069337884
NM_001042492.3(NF1):c.5255_5256del (p.Lys1752fs) rs2069338311
NM_001042492.3(NF1):c.5268+1G>T rs2069338793
NM_001042492.3(NF1):c.5281G>C (p.Ala1761Pro) rs2069375243
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.5308del (p.Thr1770fs) rs2069376216
NM_001042492.3(NF1):c.5310A>C (p.Thr1770=) rs2069376282
NM_001042492.3(NF1):c.5311A>G (p.Lys1771Glu) rs1131691103
NM_001042492.3(NF1):c.5327C>G (p.Ser1776Ter) rs2069376973
NM_001042492.3(NF1):c.5329del (p.Val1777fs) rs2069377259
NM_001042492.3(NF1):c.5357C>A (p.Ser1786Ter) rs1555533569
NM_001042492.3(NF1):c.5374del (p.Cys1792fs) rs2069378463
NM_001042492.3(NF1):c.5387del (p.Glu1796fs) rs2069379168
NM_001042492.3(NF1):c.540dup (p.Gln181fs) rs2065904037
NM_001042492.3(NF1):c.541C>T (p.Gln181Ter) rs753529924
NM_001042492.3(NF1):c.5464C>T (p.Gln1822Ter) rs2069381323
NM_001042492.3(NF1):c.5503C>T (p.Gln1835Ter) rs786202177
NM_001042492.3(NF1):c.5521C>T (p.Gln1841Ter) rs786203570
NM_001042492.3(NF1):c.5552C>T (p.Pro1851Leu) rs1555533638
NM_001042492.3(NF1):c.5561T>A (p.Leu1854Gln) rs878853903
NM_001042492.3(NF1):c.5582dup (p.Asn1861fs) rs2069385970
NM_001042492.3(NF1):c.5606dup (p.Leu1869fs) rs2069386536
NM_001042492.3(NF1):c.5609+5G>T rs1597832498
NM_001042492.3(NF1):c.5609G>A (p.Arg1870Gln) rs786202112
NM_001042492.3(NF1):c.5610-2A>T rs1135402876
NM_001042492.3(NF1):c.5619C>G (p.Ala1873=) rs786203335
NM_001042492.3(NF1):c.5619del (p.Tyr1874fs) rs1555533842
NM_001042492.3(NF1):c.5630dup (p.Cys1878fs) rs2069448473
NM_001042492.3(NF1):c.5634_5635del (p.Ala1879fs) rs2069448538
NM_001042492.3(NF1):c.5668G>C (p.Gly1890Arg) rs1597834706
NM_001042492.3(NF1):c.5731dup (p.Ile1911fs) rs2069452094
NM_001042492.3(NF1):c.573del (p.Lys191fs) rs2065904589
NM_001042492.3(NF1):c.5746G>C (p.Ala1916Pro) rs62070718
NM_001042492.3(NF1):c.5812+2_5812+3insTA rs2069454921
NM_001042492.3(NF1):c.5819_5834del (p.Glu1940fs) rs2069601265
NM_001042492.3(NF1):c.5852dup (p.Trp1952fs) rs2069602426
NM_001042492.3(NF1):c.586+1G>A rs1555607126
NM_001042492.3(NF1):c.587-2A>G rs1057518360
NM_001042492.3(NF1):c.5902C>T (p.Arg1968Ter) rs137854552
NM_001042492.3(NF1):c.5912_5913dup (p.Thr1972fs) rs2069605987
NM_001042492.3(NF1):c.5933T>C (p.Leu1978Pro) rs2069606635
NM_001042492.3(NF1):c.5933T>G (p.Leu1978Arg) rs2069606635
NM_001042492.3(NF1):c.6001G>C (p.Gly2001Arg) rs199474751
NM_001042492.3(NF1):c.6006+1G>T rs1555534433
NM_001042492.3(NF1):c.6007-5A>G rs267606604
NM_001042492.3(NF1):c.61-4del rs551568608
NM_001042492.3(NF1):c.610dup (p.Leu204fs) rs1135402793
NM_001042492.3(NF1):c.6119C>T (p.Ser2040Phe) rs2069671270
NM_001042492.3(NF1):c.6147+1G>C rs1060500296
NM_001042492.3(NF1):c.6147+8C>G rs182709912
NM_001042492.3(NF1):c.6148-1G>C rs1555534661
NM_001042492.3(NF1):c.6148-2A>G rs2069681259
NM_001042492.3(NF1):c.6221del (p.Met2074fs) rs2069683635
NM_001042492.3(NF1):c.6252C>A (p.Tyr2084Ter) rs2069684411
NM_001042492.3(NF1):c.6280C>T (p.Leu2094Phe) rs2069686019
NM_001042492.3(NF1):c.6374T>G (p.Leu2125Arg) rs1597843129
NM_001042492.3(NF1):c.6401_6402del (p.Cys2134fs) rs1597843186
NM_001042492.3(NF1):c.6427+5G>C rs1060500311
NM_001042492.3(NF1):c.6488T>A (p.Leu2163Ter) rs1353492847
NM_001042492.3(NF1):c.6533del (p.Phe2178fs) rs2069705474
NM_001042492.3(NF1):c.655-2A>C rs1555608734
NM_001042492.3(NF1):c.6585_6586del (p.Glu2195fs) rs1131691084
NM_001042492.3(NF1):c.6668delinsTT (p.Cys2223fs) rs2069717621
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.6704+5G>A rs2069719353
NM_001042492.3(NF1):c.6721_6722del (p.Asn2241fs) rs2069725054
NM_001042492.3(NF1):c.6772C>T (p.Arg2258Ter) rs876658541
NM_001042492.3(NF1):c.6819G>T (p.Lys2273Asn) rs1060500373
NM_001042492.3(NF1):c.6820-8C>T rs1060503909
NM_001042492.3(NF1):c.6829_6830del (p.Ser2277fs) rs2069742524
NM_001042492.3(NF1):c.6833dup (p.Cys2278fs) rs1555535027
NM_001042492.3(NF1):c.6852_6855del (p.Tyr2285fs) rs1555535032
NM_001042492.3(NF1):c.6854dup (p.Tyr2285Ter) rs876657715
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.6902T>G (p.Leu2301Ter) rs2069745354
NM_001042492.3(NF1):c.6921G>C (p.Lys2307Asn) rs1057523533
NM_001042492.3(NF1):c.6939del (p.Ala2314fs) rs2069790028
NM_001042492.3(NF1):c.6948_6949del (p.Phe2316fs) rs2069790360
NM_001042492.3(NF1):c.6949del (p.Trp2317fs) rs2069790360
NM_001042492.3(NF1):c.6953T>C (p.Val2318Ala) rs2069790813
NM_001042492.3(NF1):c.6955_6969del (p.Ala2319_Leu2323del) rs2069790969
NM_001042492.3(NF1):c.6989dup (p.Leu2330fs) rs2069792041
NM_001042492.3(NF1):c.6994_6995delinsATTT (p.Ser2332fs) rs2069792273
NM_001042492.3(NF1):c.7018C>T (p.Gln2340Ter) rs2069793099
NM_001042492.3(NF1):c.7062+2del rs2069795581
NM_001042492.3(NF1):c.7063-1G>C rs1131691114
NM_001042492.3(NF1):c.7063-2A>G rs1597851255
NM_001042492.3(NF1):c.7106G>A (p.Trp2369Ter) rs2069867116
NM_001042492.3(NF1):c.7110del (p.Cys2371fs) rs2069867387
NM_001042492.3(NF1):c.7153AACTTT[1] (p.2385NF[1]) rs864622639
NM_001042492.3(NF1):c.7190-33TTGT[3] rs149197458
NM_001042492.3(NF1):c.7190-33TTGT[7] rs149197458
NM_001042492.3(NF1):c.7242_7245del (p.Thr2415fs) rs2070075185
NM_001042492.3(NF1):c.724dup (p.Met242fs) rs1555608763
NM_001042492.3(NF1):c.7255_7256del (p.Leu2419fs) rs1597858459
NM_001042492.3(NF1):c.7269_7270del (p.His2423fs) rs878853913
NM_001042492.3(NF1):c.7278_7279del (p.Cys2426_Asp2427delinsTer) rs2070076932
NM_001042492.3(NF1):c.7303_7304del (p.Ser2435fs) rs1597858594
NM_001042492.3(NF1):c.731-1G>T rs1555608928
NM_001042492.3(NF1):c.7317AGC[1] (p.Ala2441del) rs1085307506
NM_001042492.3(NF1):c.7348C>T (p.Arg2450Ter) rs786202457
NM_001042492.3(NF1):c.7374_7377del (p.Arg2458fs) rs2070105179
NM_001042492.3(NF1):c.737C>A (p.Ala246Glu) rs2066155612
NM_001042492.3(NF1):c.7452del (p.Tyr2485fs) rs2070108683
NM_001042492.3(NF1):c.7456_7457+7del rs2070109067
NM_001042492.3(NF1):c.7457+1dup rs2070109145
NM_001042492.3(NF1):c.746T>G (p.Leu249Arg) rs1567826623
NM_001042492.3(NF1):c.7509C>T (p.Tyr2503=) rs1555536359
NM_001042492.3(NF1):c.7537C>T (p.Gln2513Ter) rs2070170274
NM_001042492.3(NF1):c.7544del (p.Ser2515fs) rs2070170648
NM_001042492.3(NF1):c.7546C>T (p.Pro2516Ser) rs753977783
NM_001042492.3(NF1):c.7549C>T (p.Arg2517Ter) rs866445127
NM_001042492.3(NF1):c.7615+1del rs1355691590
NM_001042492.3(NF1):c.761A>G (p.Asp254Gly) rs2066156209
NM_001042492.3(NF1):c.7682C>A (p.Ser2561Ter) rs2070274228
NM_001042492.3(NF1):c.7747_7748del (p.Arg2583fs) rs1135402907
NM_001042492.3(NF1):c.7842_7845del (p.Lys2614fs) rs2070290107
NM_001042492.3(NF1):c.7860del (p.Thr2621fs) rs2070290843
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.7970+3A>G rs1567627282
NM_001042492.3(NF1):c.7970+5G>A rs1567627286
NM_001042492.3(NF1):c.7971-8del rs564545012
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.808C>T (p.Gln270Ter) rs1555608970
NM_001042492.3(NF1):c.8142del (p.Phe2714fs) rs2070340004
NM_001042492.3(NF1):c.821T>C (p.Leu274Pro) rs2066157974
NM_001042492.3(NF1):c.888+1G>C rs1135402799
NM_001042492.3(NF1):c.888+1G>T rs1135402799
NM_001042492.3(NF1):c.889-1G>A rs587781517
NM_001042492.3(NF1):c.899T>C (p.Leu300Pro) rs2066505649
NM_001042492.3(NF1):c.910C>T (p.Arg304Ter) rs786203950
NM_001042492.3(NF1):c.978_980del (p.Leu327del) rs2066507983
NM_001042492.3(NF1):c.987A>G (p.Lys329=) rs2066508210
NM_001042492.3(NF1):c.999C>A (p.Tyr333Ter) rs1466912192

The information on this website is not intended for direct diagnostic use or medical decision-making without review by a genetics professional. Individuals should not change their health behavior solely on the basis of information contained on this website. Neither the University of Utah nor the National Institutes of Health independently verfies the submitted information. If you have questions about the information contained on this website, please see a health care professional.