ClinVar Miner

List of variants in gene NF1 reported as likely benign for abdominal and pelvic region disorder

Included ClinVar conditions (902):
Minimum submission review status: Collection method:
Minimum conflict level:
Gene type:
ClinVar version:
Total variants: 531
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HGVS dbSNP
NM_000267.3(NF1):c.*1164G>A rs140110377
NM_000267.3(NF1):c.*125del rs397754615
NM_000267.3(NF1):c.*2089G>A rs17881973
NM_000267.3(NF1):c.*2201G>A rs7406983
NM_000267.3(NF1):c.*2215_*2219del rs201032889
NM_000267.3(NF1):c.*2829T>C rs1048317
NM_000267.3(NF1):c.*498T>G rs9900729
NM_000267.3(NF1):c.*4T>C rs201044568
NM_000267.3(NF1):c.*871A>T rs568276164
NM_000267.3(NF1):c.*873A>T rs3058624
NM_000267.3(NF1):c.102C>T (p.Val34=) rs760823948
NM_000267.3(NF1):c.105T>C (p.Ser35=) rs370026303
NM_000267.3(NF1):c.1062+7T>C rs979521240
NM_000267.3(NF1):c.107C>G (p.Thr36Ser) rs199966218
NM_000267.3(NF1):c.1089A>G (p.Pro363=) rs757508086
NM_000267.3(NF1):c.1113A>C (p.Ala371=) rs786201652
NM_000267.3(NF1):c.111G>A (p.Glu37=) rs1555604893
NM_000267.3(NF1):c.1131T>C (p.Ile377=) rs1555610993
NM_000267.3(NF1):c.1137C>T (p.Cys379=) rs139648455
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.1182T>C (p.Phe394=) rs786202581
NM_000267.3(NF1):c.1185+7G>A rs1322791959
NM_000267.3(NF1):c.1185+7G>C rs1322791959
NM_000267.3(NF1):c.1186-4A>G rs769295150
NM_000267.3(NF1):c.1186-6C>T rs200684215
NM_000267.3(NF1):c.1248A>T (p.Arg416=) rs1403345664
NM_000267.3(NF1):c.1260+9A>G rs1060503908
NM_000267.3(NF1):c.1263C>T (p.Ser421=) rs767410768
NM_000267.3(NF1):c.127C>T (p.Leu43=) rs1060503913
NM_000267.3(NF1):c.1296G>A (p.Val432=) rs371599283
NM_000267.3(NF1):c.129A>C (p.Leu43=) rs759576680
NM_000267.3(NF1):c.1356A>G (p.Gln452=) rs1324833228
NM_000267.3(NF1):c.1359T>C (p.Gly453=) rs1555611595
NM_000267.3(NF1):c.1371C>T (p.His457=) rs1318894606
NM_000267.3(NF1):c.1374A>G (p.Pro458=) rs1555611601
NM_000267.3(NF1):c.1389A>G (p.Ala463=) rs1131923
NM_000267.3(NF1):c.1392+10A>G rs1060503886
NM_000267.3(NF1):c.1392+7T>C rs773017698
NM_000267.3(NF1):c.1393-9T>C rs1314978150
NM_000267.3(NF1):c.1431T>C (p.Phe477=) rs1555612278
NM_000267.3(NF1):c.1450C>T (p.Leu484=) rs876657544
NM_000267.3(NF1):c.1458A>G (p.Thr486=) rs878853866
NM_000267.3(NF1):c.1479C>G (p.Leu493=) rs139653388
NM_000267.3(NF1):c.1527+7A>T rs1555612295
NM_000267.3(NF1):c.1528-10T>C rs376174484
NM_000267.3(NF1):c.1528-9T>C rs1060503916
NM_000267.3(NF1):c.153T>C (p.Phe51=) rs1057523892
NM_000267.3(NF1):c.1541A>C (p.Gln514Pro) rs775369084
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.1548C>T (p.Pro516=) rs768883989
NM_000267.3(NF1):c.1554C>A (p.Thr518=) rs876660849
NM_000267.3(NF1):c.1569A>G (p.Ala523=) rs1555612830
NM_000267.3(NF1):c.1581A>C (p.Thr527=) rs1060503907
NM_000267.3(NF1):c.1587C>T (p.Leu529=) rs786203041
NM_000267.3(NF1):c.1593A>G (p.Gln531=) rs773712266
NM_000267.3(NF1):c.1599C>G (p.Val533=) rs369458366
NM_000267.3(NF1):c.1641+7G>C rs1060503887
NM_000267.3(NF1):c.1641+8G>C rs758022528
NM_000267.3(NF1):c.1650G>C (p.Leu550=) rs1555613190
NM_000267.3(NF1):c.1677T>C (p.Asp559=) rs1209447028
NM_000267.3(NF1):c.168C>T (p.Ser56=) rs17881168
NM_000267.3(NF1):c.1701A>G (p.Val567=) rs786203819
NM_000267.3(NF1):c.1707A>G (p.Thr569=) rs1060503898
NM_000267.3(NF1):c.171C>A (p.Gly57=) rs876658709
NM_000267.3(NF1):c.171C>T (p.Gly57=) rs876658709
NM_000267.3(NF1):c.1722-6C>G rs878853869
NM_000267.3(NF1):c.1722-6C>T rs878853869
NM_000267.3(NF1):c.1764T>C (p.His588=) rs1229784876
NM_000267.3(NF1):c.1806A>G (p.Glu602=) rs370454753
NM_000267.3(NF1):c.1866T>C (p.Cys622=) rs753245823
NM_000267.3(NF1):c.1869C>T (p.His623=) rs1555613556
NM_000267.3(NF1):c.1875C>T (p.Leu625=) rs974172157
NM_000267.3(NF1):c.1884C>T (p.Tyr628=) rs555635097
NM_000267.3(NF1):c.1887G>A (p.Gly629=) rs1555613561
NM_000267.3(NF1):c.1901T>C (p.Ile634Thr) rs527563505
NM_000267.3(NF1):c.1902T>A (p.Ile634=) rs1555613566
NM_000267.3(NF1):c.1917T>C (p.Asn639=) rs876659976
NM_000267.3(NF1):c.1933A>G (p.Met645Val) rs146051850
NM_000267.3(NF1):c.1944A>G (p.Glu648=) rs1465016257
NM_000267.3(NF1):c.1953A>G (p.Leu651=) rs1298717179
NM_000267.3(NF1):c.1974C>A (p.Leu658=) rs751318331
NM_000267.3(NF1):c.1994C>T (p.Ser665Phe) rs145891889
NM_000267.3(NF1):c.2001+7T>C rs878853870
NM_000267.3(NF1):c.2002-9G>T rs376197466
NM_000267.3(NF1):c.2010A>G (p.Ala670=) rs786202440
NM_000267.3(NF1):c.2019C>T (p.Cys673=) rs146624509
NM_000267.3(NF1):c.2028C>G (p.Thr676=) rs878853873
NM_000267.3(NF1):c.2031C>G (p.Pro677=) rs753177596
NM_000267.3(NF1):c.2034G>A (p.Pro678=) rs2285892
NM_000267.3(NF1):c.204+9T>C rs771989896
NM_000267.3(NF1):c.2061A>G (p.Leu687=) rs143671377
NM_000267.3(NF1):c.2085G>A (p.Leu695=) rs1060503889
NM_000267.3(NF1):c.2097C>T (p.Asp699=) rs547905840
NM_000267.3(NF1):c.2118C>T (p.Ala706=) rs1156646242
NM_000267.3(NF1):c.2130C>T (p.Phe710=) rs1555613806
NM_000267.3(NF1):c.2133C>T (p.Arg711=) rs148085908
NM_000267.3(NF1):c.2142T>C (p.Cys714=) rs141382637
NM_000267.3(NF1):c.2175A>G (p.Glu725=) rs1555613817
NM_000267.3(NF1):c.2181A>G (p.Ser727=) rs1203116843
NM_000267.3(NF1):c.2188A>T (p.Asn730Tyr) rs758893131
NM_000267.3(NF1):c.2199C>A (p.Pro733=) rs1555613826
NM_000267.3(NF1):c.2224G>T (p.Ala742Ser) rs587781896
NM_000267.3(NF1):c.2226C>G (p.Ala742=) rs1060503912
NM_000267.3(NF1):c.2232C>G (p.Val744=) rs748865537
NM_000267.3(NF1):c.2235C>T (p.Ser745=) rs1060503901
NM_000267.3(NF1):c.2238T>C (p.Asn746=) rs768161162
NM_000267.3(NF1):c.2250A>G (p.Thr750=) rs876659061
NM_000267.3(NF1):c.2251+9G>T rs772014402
NM_000267.3(NF1):c.2271A>G (p.Lys757=) rs1555613916
NM_000267.3(NF1):c.2284C>T (p.Leu762=) rs370762336
NM_000267.3(NF1):c.2325+7C>T rs1555613937
NM_000267.3(NF1):c.2326-8C>T rs878853874
NM_000267.3(NF1):c.2355A>G (p.Glu785=) rs876658622
NM_000267.3(NF1):c.2358A>G (p.Gln786=) rs762346437
NM_000267.3(NF1):c.235T>C (p.Leu79=) rs764855221
NM_000267.3(NF1):c.2361A>G (p.Ala787=) rs371589922
NM_000267.3(NF1):c.237A>G (p.Leu79=) rs752208826
NM_000267.3(NF1):c.2415T>G (p.Ala805=) rs1555614182
NM_000267.3(NF1):c.2445G>A (p.Arg815=) rs1555614186
NM_000267.3(NF1):c.2457T>C (p.His819=) rs976466916
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.2514C>T (p.Ile838=) rs863224352
NM_000267.3(NF1):c.2541T>C (p.Leu847=) rs147433258
NM_000267.3(NF1):c.2544G>A (p.Gly848=) rs17883704
NM_000267.3(NF1):c.2547A>C (p.Gly849=) rs748303121
NM_000267.3(NF1):c.2550G>A (p.Val850=) rs772148227
NM_000267.3(NF1):c.2550G>T (p.Val850=) rs772148227
NM_000267.3(NF1):c.2556C>T (p.Leu852=) rs771308677
NM_000267.3(NF1):c.2583A>G (p.Ala861=) rs1060503891
NM_000267.3(NF1):c.2592C>T (p.Ser864=) rs761499485
NM_000267.3(NF1):c.2619T>C (p.Arg873=) rs766212733
NM_000267.3(NF1):c.2622G>A (p.Lys874=) rs77917884
NM_000267.3(NF1):c.2640G>A (p.Val880=) rs786202443
NM_000267.3(NF1):c.264T>C (p.Asp88=) rs1359209770
NM_000267.3(NF1):c.2658C>T (p.Asn886=) rs781549970
NM_000267.3(NF1):c.2694G>C (p.Leu898=) rs1060503923
NM_000267.3(NF1):c.2709G>T (p.Val903=) rs771820789
NM_000267.3(NF1):c.2736A>G (p.Gln912=) rs760097413
NM_000267.3(NF1):c.2742G>A (p.Arg914=) rs1555614324
NM_000267.3(NF1):c.276A>G (p.Lys92=) rs1060503900
NM_000267.3(NF1):c.2781T>G (p.Pro927=) rs1555614337
NM_000267.3(NF1):c.2805C>T (p.Asn935=) rs1060503894
NM_000267.3(NF1):c.2838C>T (p.Asp946=) rs147188807
NM_000267.3(NF1):c.2841C>T (p.Ser947=) rs1555614355
NM_000267.3(NF1):c.2850+10T>G rs771916458
NM_000267.3(NF1):c.2851-10C>G rs1555614412
NM_000267.3(NF1):c.2856A>G (p.Leu952=) rs750488772
NM_000267.3(NF1):c.288+10T>G rs1364620059
NM_000267.3(NF1):c.2928T>C (p.Thr976=) rs1555614446
NM_000267.3(NF1):c.2990+7A>G rs1555614465
NM_000267.3(NF1):c.2990+7A>T rs1555614465
NM_000267.3(NF1):c.2991-6A>G rs1191095886
NM_000267.3(NF1):c.3000T>C (p.Arg1000=) rs764332485
NM_000267.3(NF1):c.3024A>G (p.Ala1008=) rs779490777
NM_000267.3(NF1):c.3039G>A (p.Thr1013=) rs876660168
NM_000267.3(NF1):c.3045G>A (p.Leu1015=) rs926335233
NM_000267.3(NF1):c.3063A>C (p.Val1021=) rs768611775
NM_000267.3(NF1):c.3081T>C (p.Asp1027=) rs1555614532
NM_000267.3(NF1):c.3111T>C (p.Phe1037=) rs200240170
NM_000267.3(NF1):c.3114-4A>G rs201550230
NM_000267.3(NF1):c.3114-4A>T rs201550230
NM_000267.3(NF1):c.3192T>C (p.Leu1064=) rs1555614649
NM_000267.3(NF1):c.3195A>G (p.Thr1065=) rs1555614650
NM_000267.3(NF1):c.3198-4_3198-3insTC rs864622717
NM_000267.3(NF1):c.3198-4_3198-3insTTC rs864622717
NM_000267.3(NF1):c.3198-4_3198-3insTTTC rs864622717
NM_000267.3(NF1):c.3198-5T>C rs587782639
NM_000267.3(NF1):c.3198A>G (p.Arg1066=) rs864622469
NM_000267.3(NF1):c.3225A>G (p.Ala1075=) rs746022492
NM_000267.3(NF1):c.3246T>C (p.Gly1082=) rs876660670
NM_000267.3(NF1):c.3300A>G (p.Ser1100=) rs1060503915
NM_000267.3(NF1):c.3303G>A (p.Gln1101=) rs876659944
NM_000267.3(NF1):c.3315-8T>C rs764783865
NM_000267.3(NF1):c.3340T>C (p.Leu1114=) rs1555614928
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.340C>T (p.Leu114=) rs7207410
NM_000267.3(NF1):c.3417A>C (p.Ala1139=) rs864622524
NM_000267.3(NF1):c.3417A>T (p.Ala1139=) rs864622524
NM_000267.3(NF1):c.3420A>G (p.Ser1140=) rs1555614961
NM_000267.3(NF1):c.3435G>A (p.Thr1145=) rs772432150
NM_000267.3(NF1):c.3438C>T (p.Val1146=) rs876659646
NM_000267.3(NF1):c.3484A>G (p.Met1162Val) rs773968270
NM_000267.3(NF1):c.3496+19T>C rs9890283
NM_000267.3(NF1):c.3496+7T>C rs1060503921
NM_000267.3(NF1):c.3513G>A (p.Lys1171=) rs765438014
NM_000267.3(NF1):c.3519C>T (p.Leu1173=) rs1555615020
NM_000267.3(NF1):c.3534A>G (p.Thr1178=) rs876658210
NM_000267.3(NF1):c.3549G>C (p.Leu1183=) rs1051842
NM_000267.3(NF1):c.354C>T (p.Cys118=) rs768777585
NM_000267.3(NF1):c.3564A>G (p.Gln1188=) rs777859444
NM_000267.3(NF1):c.3619A>C (p.Arg1207=) rs202208560
NM_000267.3(NF1):c.3636C>A (p.Val1212=) rs145126193
NM_000267.3(NF1):c.3639A>G (p.Thr1213=) rs1555615069
NM_000267.3(NF1):c.3648T>A (p.Gly1216=) rs1060503897
NM_000267.3(NF1):c.366C>T (p.His122=) rs138952888
NM_000267.3(NF1):c.3672G>A (p.Ala1224=) rs151293900
NM_000267.3(NF1):c.3686A>G (p.Asn1229Ser) rs140523180
NM_000267.3(NF1):c.3690G>T (p.Val1230=) rs183296277
NM_000267.3(NF1):c.369C>G (p.Thr123=) rs146691765
NM_000267.3(NF1):c.369C>T (p.Thr123=) rs146691765
NM_000267.3(NF1):c.3708+7G>A rs1555615115
NM_000267.3(NF1):c.3709-10T>C rs878853887
NM_000267.3(NF1):c.3709-8G>C rs767650263
NM_000267.3(NF1):c.3726T>A (p.Val1242=) rs878853888
NM_000267.3(NF1):c.3727C>T (p.Leu1243=) rs750993436
NM_000267.3(NF1):c.372T>C (p.Cys124=) rs1555606078
NM_000267.3(NF1):c.3756A>G (p.Leu1252=) rs1298630862
NM_000267.3(NF1):c.3766C>T (p.Leu1256=) rs876659360
NM_000267.3(NF1):c.3843C>T (p.Ala1281=) rs150426576
NM_000267.3(NF1):c.3867C>T (p.Phe1289=) rs138186428
NM_000267.3(NF1):c.3871-4G>C rs558421445
NM_000267.3(NF1):c.3891A>G (p.Leu1297=) rs753036396
NM_000267.3(NF1):c.3903G>A (p.Leu1301=) rs876660789
NM_000267.3(NF1):c.3906T>C (p.Asp1302=) rs549058591
NM_000267.3(NF1):c.3939T>C (p.Asp1313=) rs864622325
NM_000267.3(NF1):c.393A>C (p.Ala131=) rs761086521
NM_000267.3(NF1):c.3974+9T>A rs368586596
NM_000267.3(NF1):c.3990G>A (p.Glu1330=) rs863224353
NM_000267.3(NF1):c.4020T>C (p.Leu1340=) rs863224354
NM_000267.3(NF1):c.4071C>T (p.Phe1357=) rs747272290
NM_000267.3(NF1):c.4077T>C (p.Pro1359=) rs1555617366
NM_000267.3(NF1):c.4095C>T (p.Cys1365=) rs1060503922
NM_000267.3(NF1):c.4110+10C>T rs776277455
NM_000267.3(NF1):c.4110+9A>T rs1555617387
NM_000267.3(NF1):c.4111-8_4111-6del rs751729752
NM_000267.3(NF1):c.4125T>A (p.Arg1375=) rs1555618496
NM_000267.3(NF1):c.4143C>T (p.Ile1381=) rs864622406
NM_000267.3(NF1):c.4146T>C (p.Gly1382=) rs761772247
NM_000267.3(NF1):c.4167C>T (p.Phe1389=) rs750213850
NM_000267.3(NF1):c.417T>C (p.Ser139=) rs762434870
NM_000267.3(NF1):c.4188C>T (p.Ala1396=) rs1555618524
NM_000267.3(NF1):c.4194C>T (p.Val1398=) rs886038395
NM_000267.3(NF1):c.4200G>A (p.Pro1400=) rs201648604
NM_000267.3(NF1):c.4200G>T (p.Pro1400=) rs201648604
NM_000267.3(NF1):c.4209A>T (p.Ala1403=) rs753182376
NM_000267.3(NF1):c.4221T>C (p.Asp1407=) rs1555618550
NM_000267.3(NF1):c.4227G>A (p.Lys1409=) rs373086572
NM_000267.3(NF1):c.4233A>C (p.Pro1411=) rs864622492
NM_000267.3(NF1):c.4242C>T (p.Ile1414=) rs779865988
NM_000267.3(NF1):c.4248G>A (p.Arg1416=) rs1060503896
NM_000267.3(NF1):c.4269+8A>G rs773883353
NM_000267.3(NF1):c.4299C>T (p.Leu1433=) rs864622298
NM_000267.3(NF1):c.4368-8T>C rs1555618801
NM_000267.3(NF1):c.4371T>C (p.Phe1457=) rs1310523976
NM_000267.3(NF1):c.4392T>C (p.Asp1464=) rs186556778
NM_000267.3(NF1):c.4416T>C (p.Asn1472=) rs1060503888
NM_000267.3(NF1):c.4437T>C (p.Ser1479=) rs775018971
NM_000267.3(NF1):c.4440C>T (p.Asp1480=) rs577394398
NM_000267.3(NF1):c.4497G>A (p.Gln1499=) rs1555618859
NM_000267.3(NF1):c.450C>T (p.Phe150=) rs202142624
NM_000267.3(NF1):c.4514+11C>G rs190614908
NM_000267.3(NF1):c.4514+9delT rs772339679
NM_000267.3(NF1):c.4515-5T>C rs772759508
NM_000267.3(NF1):c.4530T>C (p.Val1510=) rs773315342
NM_000267.3(NF1):c.4563T>C (p.Leu1521=) rs1555619012
NM_000267.3(NF1):c.4569A>G (p.Ala1523=) rs781741727
NM_000267.3(NF1):c.456A>C (p.Ala152=) rs377481833
NM_000267.3(NF1):c.456A>G (p.Ala152=) rs377481833
NM_000267.3(NF1):c.4572C>T (p.Tyr1524=) rs754023358
NM_000267.3(NF1):c.4584A>G (p.Pro1528=) rs1305841472
NM_000267.3(NF1):c.4602A>C (p.Ala1534=) rs786201457
NM_000267.3(NF1):c.4605T>C (p.Asp1535=) rs763874870
NM_000267.3(NF1):c.4608A>G (p.Thr1536=) rs876658990
NM_000267.3(NF1):c.4632C>T (p.Thr1544=) rs1555619045
NM_000267.3(NF1):c.4641G>A (p.Lys1547=) rs1424931932
NM_000267.3(NF1):c.4661+7T>C rs864622178
NM_000267.3(NF1):c.4662-5T>C rs1060503903
NM_000267.3(NF1):c.4686A>G (p.Glu1562=) rs144091165
NM_000267.3(NF1):c.468C>T (p.Arg156=) rs779074793
NM_000267.3(NF1):c.4740T>C (p.Ala1580=) rs148662566
NM_000267.3(NF1):c.4771A>C (p.Arg1591=) rs755137259
NM_000267.3(NF1):c.4788A>G (p.Gln1596=) rs150309802
NM_000267.3(NF1):c.479+7G>A rs778398666
NM_000267.3(NF1):c.4797T>C (p.Gly1599=) rs864622747
NM_000267.3(NF1):c.480-5T>C rs1555607069
NM_000267.3(NF1):c.4806G>A (p.Leu1602=) rs1555533279
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.4836A>G (p.Pro1612=) rs876658422
NM_000267.3(NF1):c.4866G>A (p.Val1622=) rs17880521
NM_000267.3(NF1):c.4869C>T (p.Asp1623=) rs1555533304
NM_000267.3(NF1):c.4881C>T (p.Thr1627=) rs759291615
NM_000267.3(NF1):c.4914C>G (p.Leu1638=) rs863224355
NM_000267.3(NF1):c.4941C>G (p.Gly1647=) rs751603479
NM_000267.3(NF1):c.4944T>C (p.Phe1648=) rs761807609
NM_000267.3(NF1):c.4950C>T (p.Tyr1650=) rs1060500255
NM_000267.3(NF1):c.4956C>T (p.Asn1652=) rs767699634
NM_000267.3(NF1):c.4962C>T (p.Ser1654=) rs17878418
NM_000267.3(NF1):c.4972A>G (p.Ile1658Val) rs147327414
NM_000267.3(NF1):c.4977T>C (p.Tyr1659=) rs1555533351
NM_000267.3(NF1):c.4995C>T (p.Val1665=) rs1315128684
NM_000267.3(NF1):c.504A>G (p.Ser168=) rs876658638
NM_000267.3(NF1):c.5076G>A (p.Gly1692=) rs786202181
NM_000267.3(NF1):c.5106A>G (p.Gln1702=) rs864622372
NM_000267.3(NF1):c.5128T>C (p.Leu1710=) rs876658602
NM_000267.3(NF1):c.5166T>C (p.Ala1722=) rs876657546
NM_000267.3(NF1):c.5187C>T (p.Asp1729=) rs1210732116
NM_000267.3(NF1):c.5193A>G (p.Lys1731=) rs1060503899
NM_000267.3(NF1):c.5205+7T>C rs772663607
NM_000267.3(NF1):c.5206-9A>G rs544515671
NM_000267.3(NF1):c.5223C>T (p.Val1741=) rs748566277
NM_000267.3(NF1):c.5259G>A (p.Gly1753=) rs201584313
NM_000267.3(NF1):c.525T>C (p.His175=) rs750358089
NM_000267.3(NF1):c.528T>A (p.Asp176Glu) rs112306990
NM_000267.3(NF1):c.5314C>T (p.Leu1772=) rs761676110
NM_000267.3(NF1):c.5334C>T (p.Phe1778=) rs878853901
NM_000267.3(NF1):c.5361G>A (p.Thr1787=) rs765841113
NM_000267.3(NF1):c.5373C>T (p.Phe1791=) rs864622640
NM_000267.3(NF1):c.5427C>T (p.Arg1809=) rs1245095693
NM_000267.3(NF1):c.5434C>T (p.Leu1812=) rs372932380
NM_000267.3(NF1):c.5445C>T (p.Pro1815=) rs786202557
NM_000267.3(NF1):c.5454C>A (p.Ile1818=) rs865839207
NM_000267.3(NF1):c.5493G>A (p.Gly1831=) rs763146785
NM_000267.3(NF1):c.5508C>T (p.Ile1836=) rs771837192
NM_000267.3(NF1):c.5511A>G (p.Ala1837=) rs760561904
NM_000267.3(NF1):c.5546+8T>C rs753289678
NM_000267.3(NF1):c.5556C>G (p.Ala1852=) rs786203335
NM_000267.3(NF1):c.5562T>C (p.Asn1854=) rs1275173622
NM_000267.3(NF1):c.5568G>A (p.Leu1856=) rs1555533844
NM_000267.3(NF1):c.5586C>T (p.Thr1862=) rs139696493
NM_000267.3(NF1):c.5595A>G (p.Leu1865=) rs1555533854
NM_000267.3(NF1):c.5601C>T (p.Ile1867=) rs373685150
NM_000267.3(NF1):c.5610G>A (p.Gln1870=) rs1555533857
NM_000267.3(NF1):c.5652C>T (p.Thr1884=) rs1060503892
NM_000267.3(NF1):c.5679A>T (p.Thr1893=) rs1555533874
NM_000267.3(NF1):c.5682G>T (p.Leu1894=) rs1234091349
NM_000267.3(NF1):c.5694G>A (p.Glu1898=) rs141077224
NM_000267.3(NF1):c.5706G>A (p.Thr1902=) rs780145472
NM_000267.3(NF1):c.5730T>C (p.Ile1910=) rs779114598
NM_000267.3(NF1):c.5749+8A>G rs372075322
NM_000267.3(NF1):c.5802T>C (p.Asn1934=) rs863224356
NM_000267.3(NF1):c.582G>A (p.Leu194=) rs786201846
NM_000267.3(NF1):c.5847A>G (p.Arg1949=) rs777021090
NM_000267.3(NF1):c.586+10_586+15delAATGTA rs1555607130
NM_000267.3(NF1):c.5862T>C (p.Leu1954=) rs375776474
NM_000267.3(NF1):c.5868G>A (p.Lys1956=) rs786201672
NM_000267.3(NF1):c.5871G>A (p.Leu1957=) rs535803385
NM_000267.3(NF1):c.5883C>T (p.Thr1961=) rs1555534423
NM_000267.3(NF1):c.5892A>G (p.Glu1964=) rs369043956
NM_000267.3(NF1):c.5895A>G (p.Lys1965=) rs1216926117
NM_000267.3(NF1):c.5898G>A (p.Gln1966=) rs757536610
NM_000267.3(NF1):c.5913T>C (p.Ile1971=) rs766233634
NM_000267.3(NF1):c.594A>T (p.Ala198=) rs138411879
NM_000267.3(NF1):c.5970A>C (p.Leu1990=) rs147995863
NM_000267.3(NF1):c.5970A>G (p.Leu1990=) rs147995863
NM_000267.3(NF1):c.5982C>A (p.Ile1994=) rs1433863184
NM_000267.3(NF1):c.5997A>G (p.Thr1999=) rs761889172
NM_000267.3(NF1):c.60+7G>C rs1060503895
NM_000267.3(NF1):c.6084+8C>T rs182709912
NM_000267.3(NF1):c.61-4delT rs551568608
NM_000267.3(NF1):c.61-9T>C rs780956522
NM_000267.3(NF1):c.6108A>T (p.Ile2036=) rs140733963
NM_000267.3(NF1):c.6123C>T (p.Cys2041=) rs1555534669
NM_000267.3(NF1):c.6126A>G (p.Leu2042=) rs1060503911
NM_000267.3(NF1):c.6129T>C (p.Ser2043=) rs765094377
NM_000267.3(NF1):c.6132A>C (p.Pro2044=) rs1060503920
NM_000267.3(NF1):c.6150A>G (p.Gln2050=) rs1060503910
NM_000267.3(NF1):c.6165T>C (p.Asp2055=) rs1555534682
NM_000267.3(NF1):c.6201G>A (p.Leu2067=) rs762751192
NM_000267.3(NF1):c.6216C>T (p.Ser2072=) rs1055695069
NM_000267.3(NF1):c.6234T>C (p.His2078=) rs751517473
NM_000267.3(NF1):c.623C>T (p.Ala208Val) rs758624540
NM_000267.3(NF1):c.624G>A (p.Ala208=) rs370184932
NM_000267.3(NF1):c.6252C>T (p.His2084=) rs145732909
NM_000267.3(NF1):c.6261T>C (p.Thr2087=) rs1555534728
NM_000267.3(NF1):c.6265T>C (p.Leu2089=) rs780230966
NM_000267.3(NF1):c.627G>A (p.Gln209=) rs1060503919
NM_000267.3(NF1):c.6282G>A (p.Pro2094=) rs779475182
NM_000267.3(NF1):c.628T>C (p.Leu210=) rs757812365
NM_000267.3(NF1):c.6297T>C (p.Ala2099=) rs371578074
NM_000267.3(NF1):c.6312G>A (p.Leu2104=) rs773467465
NM_000267.3(NF1):c.6315C>T (p.Val2105=) rs760941036
NM_000267.3(NF1):c.6324C>T (p.Ile2108=) rs786203078
NM_000267.3(NF1):c.6330C>T (p.His2110=) rs17881788
NM_000267.3(NF1):c.633A>G (p.Ala211=) rs876660800
NM_000267.3(NF1):c.6357T>C (p.His2119=) rs762803346
NM_000267.3(NF1):c.6364+10A>G rs763852229
NM_000267.3(NF1):c.6364+8C>T rs864622598
NM_000267.3(NF1):c.6365-6T>C rs772738883
NM_000267.3(NF1):c.6393T>C (p.Ser2131=) rs776897972
NM_000267.3(NF1):c.6417A>G (p.Lys2139=) rs1060503918
NM_000267.3(NF1):c.6465T>C (p.Ile2155=) rs147522129
NM_000267.3(NF1):c.6483C>T (p.Tyr2161=) rs876659768
NM_000267.3(NF1):c.6486G>A (p.Arg2162=) rs1028183407
NM_000267.3(NF1):c.6489C>T (p.Asp2163=) rs376808264
NM_000267.3(NF1):c.6495A>C (p.Ser2165=) rs753509749
NM_000267.3(NF1):c.6537A>C (p.Thr2179=) rs747576584
NM_000267.3(NF1):c.655-8A>G rs758089068
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.6580-4T>C rs1555534908
NM_000267.3(NF1):c.6580-8T>C rs752079977
NM_000267.3(NF1):c.6618C>T (p.Asp2206=) rs876659371
NM_000267.3(NF1):c.6681T>A (p.Ala2227=) rs878853910
NM_000267.3(NF1):c.6687T>C (p.Val2229=) rs762075320
NM_000267.3(NF1):c.6723G>A (p.Gly2241=) rs878853911
NM_000267.3(NF1):c.6756+4C>T rs755135948
NM_000267.3(NF1):c.6756+7G>C rs200532525
NM_000267.3(NF1):c.6757-5A>G rs1555535022
NM_000267.3(NF1):c.6757-7C>T rs1555535020
NM_000267.3(NF1):c.6757-8C>T rs1060503909
NM_000267.3(NF1):c.6759A>C (p.Ala2253=) rs1555535025
NM_000267.3(NF1):c.6771C>T (p.Cys2257=) rs149603406
NM_000267.3(NF1):c.6807G>T (p.Leu2269=) rs773658814
NM_000267.3(NF1):c.6816T>C (p.Ala2272=) rs761125983
NM_000267.3(NF1):c.6829C>T (p.Leu2277=) rs1555535049
NM_000267.3(NF1):c.6858+10G>A rs767166725
NM_000267.3(NF1):c.6858+9T>C rs1555535059
NM_000267.3(NF1):c.6859-5G>A rs1555535158
NM_000267.3(NF1):c.6859-8T>C rs191255643
NM_000267.3(NF1):c.6882C>G (p.Leu2294=) rs751893971
NM_000267.3(NF1):c.6942C>T (p.Thr2314=) rs2040793
NM_000267.3(NF1):c.6963G>A (p.Leu2321=) rs371581213
NM_000267.3(NF1):c.6963G>T (p.Leu2321=) rs371581213
NM_000267.3(NF1):c.6966T>C (p.His2322=) rs1555535187
NM_000267.3(NF1):c.6969T>C (p.Thr2323=) rs1201730858
NM_000267.3(NF1):c.696A>G (p.Thr232=) rs368691517
NM_000267.3(NF1):c.6999+8A>G rs864622468
NM_000267.3(NF1):c.7000-6T>C rs780593077
NM_000267.3(NF1):c.7000-6delT rs756593267
NM_000267.3(NF1):c.7000-7_7000-6delTTinsC rs864622725
NM_000267.3(NF1):c.7000-9C>T rs1555535398
NM_000267.3(NF1):c.7023A>C (p.Ala2341=) rs1241296625
NM_000267.3(NF1):c.702G>A (p.Leu234=) rs1801052
NM_000267.3(NF1):c.7047C>T (p.His2349=) rs201881479
NM_000267.3(NF1):c.7095T>C (p.Phe2365=) rs876660271
NM_000267.3(NF1):c.7104A>C (p.Ala2368=) rs1555535447
NM_000267.3(NF1):c.7126+7A>G rs767151173
NM_000267.3(NF1):c.7126+8A>G rs750100211
NM_000267.3(NF1):c.7127-7T>G rs779081215
NM_000267.3(NF1):c.7128G>A (p.Gly2376=) rs773474652
NM_000267.3(NF1):c.7134G>A (p.Arg2378=) rs1555536017
NM_000267.3(NF1):c.7182A>G (p.Thr2394=) rs539553128
NM_000267.3(NF1):c.720T>C (p.Thr240=) rs1555608761
NM_000267.3(NF1):c.7212T>C (p.Asn2404=) rs1060503904
NM_000267.3(NF1):c.7221A>G (p.Lys2407=) rs1555536034
NM_000267.3(NF1):c.7235C>T (p.Thr2412Ile) rs755749772
NM_000267.3(NF1):c.7251C>T (p.Tyr2417=) rs1060500385
NM_000267.3(NF1):c.7258+8C>T rs1555536044
NM_000267.3(NF1):c.7259-10T>G rs759969966
NM_000267.3(NF1):c.7260T>G (p.Ala2420=) rs765750009
NM_000267.3(NF1):c.7263A>G (p.Leu2421=) rs753224880
NM_000267.3(NF1):c.7269A>G (p.Thr2423=) rs759005886
NM_000267.3(NF1):c.7281A>G (p.Glu2427=) rs374234848
NM_000267.3(NF1):c.7296C>T (p.Cys2432=) rs1555536126
NM_000267.3(NF1):c.730+10C>T rs750468471
NM_000267.3(NF1):c.730+8T>C rs1555608771
NM_000267.3(NF1):c.7320T>C (p.Leu2440=) rs1555536133
NM_000267.3(NF1):c.7365T>C (p.Tyr2455=) rs181397225
NM_000267.3(NF1):c.7374T>C (p.His2458=) rs1355368926
NM_000267.3(NF1):c.7386T>C (p.Pro2462=) rs878853916
NM_000267.3(NF1):c.7394+8G>T rs376147282
NM_000267.3(NF1):c.7395-7C>T rs758106590
NM_000267.3(NF1):c.7398A>C (p.Thr2466=) rs149924365
NM_000267.3(NF1):c.7407G>A (p.Glu2469=) rs1555536339
NM_000267.3(NF1):c.7416A>G (p.Pro2472=) rs144957306
NM_000267.3(NF1):c.7470C>T (p.Val2490=) rs760733171
NM_000267.3(NF1):c.7491C>G (p.Ala2497=) rs141897690
NM_000267.3(NF1):c.7507C>T (p.Leu2503=) rs1555536366
NM_000267.3(NF1):c.7518G>C (p.Gly2506=) rs1555536369
NM_000267.3(NF1):c.7533C>T (p.Ala2511=) rs864622517
NM_000267.3(NF1):c.7552+8T>C rs1555536383
NM_000267.3(NF1):c.7560G>A (p.Arg2520=) rs876660737
NM_000267.3(NF1):c.75A>C (p.Thr25=) rs768754175
NM_000267.3(NF1):c.7692C>T (p.Ser2564=) rs17881980
NM_000267.3(NF1):c.7707C>T (p.His2569=) rs1060503906
NM_000267.3(NF1):c.771T>C (p.Ala257=) rs766932517
NM_000267.3(NF1):c.7731G>A (p.Val2577=) rs1555536699
NM_000267.3(NF1):c.7770T>C (p.Thr2590=) rs786202445
NM_000267.3(NF1):c.7776G>A (p.Pro2592=) rs752218441
NM_000267.3(NF1):c.7776G>C (p.Pro2592=) rs752218441
NM_000267.3(NF1):c.7788G>A (p.Ala2596=) rs751273275
NM_000267.3(NF1):c.7788G>T (p.Ala2596=) rs751273275
NM_000267.3(NF1):c.7812A>G (p.Thr2604=) rs763646216
NM_000267.3(NF1):c.7818A>G (p.Val2606=) rs756880349
NM_000267.3(NF1):c.7824T>C (p.Tyr2608=) rs767860040
NM_000267.3(NF1):c.7847G>A (p.Arg2616Gln) rs560262404
NM_000267.3(NF1):c.7908-4T>G rs1555536865
NM_000267.3(NF1):c.7908-7C>A rs754359027
NM_000267.3(NF1):c.7908-8T>C rs766889741
NM_000267.3(NF1):c.7918T>C (p.Leu2640=) rs777848844
NM_000267.3(NF1):c.7923C>T (p.Asp2641=) rs876658550
NM_000267.3(NF1):c.7935C>T (p.Asn2645=) rs747307832
NM_000267.3(NF1):c.7938C>A (p.Thr2646=) rs876658475
NM_000267.3(NF1):c.7938C>T (p.Thr2646=) rs876658475
NM_000267.3(NF1):c.7939C>T (p.Leu2647=) rs1060503905
NM_000267.3(NF1):c.7977A>T (p.Pro2659=) rs749163014
NM_000267.3(NF1):c.8042A>T (p.Tyr2681Phe) rs201824349
NM_000267.3(NF1):c.804A>G (p.Pro268=) rs759964997
NM_000267.3(NF1):c.8051-70A>T rs192112633
NM_000267.3(NF1):c.8064T>C (p.Asn2688=) rs1555537015
NM_000267.3(NF1):c.8076G>A (p.Arg2692=) rs139527415
NM_000267.3(NF1):c.807A>G (p.Leu269=) rs1333394353
NM_000267.3(NF1):c.8088G>A (p.Pro2696=) rs2285895
NM_000267.3(NF1):c.8097+9A>C rs997202389
NM_000267.3(NF1):c.8098-7A>G rs767623039
NM_000267.3(NF1):c.8098-8C>T rs1425972521
NM_000267.3(NF1):c.8160G>A (p.Thr2720=) rs777755159
NM_000267.3(NF1):c.8160G>C (p.Thr2720=) rs777755159
NM_000267.3(NF1):c.8166G>A (p.Leu2722=) rs1060503917
NM_000267.3(NF1):c.819C>T (p.Leu273=) rs765595990
NM_000267.3(NF1):c.8233C>T (p.Leu2745=) rs749647961
NM_000267.3(NF1):c.8315-4C>T rs587782700
NM_000267.3(NF1):c.8315-6C>T rs761763159
NM_000267.3(NF1):c.8319C>T (p.Ile2773=) rs1060503890
NM_000267.3(NF1):c.8322C>T (p.Asp2774=) rs144635489
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.834A>G (p.Pro278=) rs1318820078
NM_000267.3(NF1):c.8355C>T (p.Gly2785=) rs1555538535
NM_000267.3(NF1):c.8388C>T (p.Ser2796=) rs547090599
NM_000267.3(NF1):c.843C>A (p.Ile281=) rs146094856
NM_000267.3(NF1):c.8448G>A (p.Lys2816=) rs752398289
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.864G>C (p.Val288=) rs201181517
NM_000267.3(NF1):c.864G>T (p.Val288=) rs201181517
NM_000267.3(NF1):c.876C>T (p.Asn292=) rs786202811
NM_000267.3(NF1):c.87C>T (p.Asn29=) rs1060503914
NM_000267.3(NF1):c.889-6delC rs864622362
NM_000267.3(NF1):c.898C>T (p.Leu300=) rs786201926
NM_000267.3(NF1):c.930T>C (p.His310=) rs1555610865
NM_000267.3(NF1):c.942G>A (p.Arg314=) rs786203445
NM_000267.3(NF1):c.969C>T (p.Ala323=) rs786201462
NM_000267.3(NF1):c.96C>G (p.Thr32=) rs1555604886
NM_001042492.2(NF1):c.7189+8dup rs753952604

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