ClinVar Miner

List of variants in gene NF1 studied for not specified

Minimum submission review status: Collection method:
Minimum conflict level:
Gene type:
ClinVar version:
Total variants: 276
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HGVS dbSNP
NM_000267.3(NF1):c.*4T>C rs201044568
NM_000267.3(NF1):c.1005T>C (p.Asn335=) rs777369021
NM_000267.3(NF1):c.1009G>T (p.Glu337Ter) rs747241884
NM_000267.3(NF1):c.1032A>G (p.Leu344=) rs199832006
NM_000267.3(NF1):c.1094C>G (p.Ser365Ter) rs864622107
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.1178del (p.His393fs) rs1555611037
NM_000267.3(NF1):c.1185+2T>G rs1555611043
NM_000267.3(NF1):c.1186-13delT rs763903212
NM_000267.3(NF1):c.1186-19T>A rs772566923
NM_000267.3(NF1):c.1186-4A>G rs769295150
NM_000267.3(NF1):c.1296G>A (p.Val432=) rs371599283
NM_000267.3(NF1):c.1393-31G>A rs564424477
NM_000267.3(NF1):c.1393-32T>C rs2905876
NM_000267.3(NF1):c.1400C>A (p.Thr467Lys) rs1567841729
NM_000267.3(NF1):c.1450C>T (p.Leu484=) rs876657544
NM_000267.3(NF1):c.1528-9dup rs776722942
NM_000267.3(NF1):c.1549G>A (p.Glu517Lys) rs587778548
NM_000267.3(NF1):c.1554C>A (p.Thr518=) rs876660849
NM_000267.3(NF1):c.1587C>T (p.Leu529=) rs786203041
NM_000267.3(NF1):c.1599C>G (p.Val533=) rs369458366
NM_000267.3(NF1):c.1641+39T>C rs2905880
NM_000267.3(NF1):c.168C>T (p.Ser56=) rs17881168
NM_000267.3(NF1):c.1721+5A>G rs876658961
NM_000267.3(NF1):c.1769T>C (p.Met590Thr) rs761559887
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+17_1845+18delAT rs765979407
NM_000267.3(NF1):c.1846-12A>T rs188510882
NM_000267.3(NF1):c.1846-39C>T rs17885830
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.1894T>A (p.Cys632Ser) rs370789267
NM_000267.3(NF1):c.1933A>G (p.Met645Val) rs146051850
NM_000267.3(NF1):c.1955G>A (p.Arg652His) rs587778549
NM_000267.3(NF1):c.1974C>A (p.Leu658=) rs751318331
NM_000267.3(NF1):c.1976G>A (p.Arg659Gln) rs151138158
NM_000267.3(NF1):c.1994C>T (p.Ser665Phe) rs145891889
NM_000267.3(NF1):c.2014G>A (p.Gly672Arg) rs786202632
NM_000267.3(NF1):c.2022C>T (p.Ser674=) rs2230851
NM_000267.3(NF1):c.2033C>T (p.Pro678Leu) rs17881753
NM_000267.3(NF1):c.2034G>A (p.Pro678=) rs2285892
NM_000267.3(NF1):c.2061A>G (p.Leu687=) rs143671377
NM_000267.3(NF1):c.2077_2078del (p.Met693fs) rs1555613795
NM_000267.3(NF1):c.2133C>T (p.Arg711=) rs148085908
NM_000267.3(NF1):c.2252-31A>T rs141082540
NM_000267.3(NF1):c.2252-34T>C rs200937398
NM_000267.3(NF1):c.2325+16C>G rs371709563
NM_000267.3(NF1):c.2331G>A (p.Trp777Ter) rs1555613983
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.239A>C (p.Tyr80Ser) rs4795581
NM_000267.3(NF1):c.2410-12T>C rs876657932
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.2540T>C (p.Leu847Pro) rs199474747
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.2544G>C (p.Gly848=) rs17883704
NM_000267.3(NF1):c.2553C>T (p.Cys851=) rs2230852
NM_000267.3(NF1):c.2572T>C (p.Ser858Pro) rs587778550
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.2803A>G (p.Asn935Asp) rs786201823
NM_000267.3(NF1):c.2819C>G (p.Thr940Ser) rs368995630
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.2985G>C (p.Leu995=) rs17881467
NM_000267.3(NF1):c.3063A>C (p.Val1021=) rs768611775
NM_000267.3(NF1):c.3076A>T (p.Arg1026Ter) rs1555614529
NM_000267.3(NF1):c.3118A>G (p.Lys1040Glu) rs1555614619
NM_000267.3(NF1):c.3197+9dupA rs755212937
NM_000267.3(NF1):c.3198-4T>C rs587782218
NM_000267.3(NF1):c.3198-5T>C rs587782639
NM_000267.3(NF1):c.3198-5_3198-4insC rs1555614804
NM_000267.3(NF1):c.3270A>C (p.Gly1090=) rs150015024
NM_000267.3(NF1):c.334C>T (p.Gln112Ter) rs1555606061
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.3415G>A (p.Ala1139Thr) rs587778551
NM_000267.3(NF1):c.3436G>A (p.Val1146Ile) rs201047812
NM_000267.3(NF1):c.3468C>T (p.Asn1156=) rs147955381
NM_000267.3(NF1):c.3496+19T>C rs9890283
NM_000267.3(NF1):c.3496+33C>A rs2066736
NM_000267.3(NF1):c.3498C>T (p.Gly1166=) rs2066733
NM_000267.3(NF1):c.3537del (p.Phe1179fs) rs1555615026
NM_000267.3(NF1):c.3566A>G (p.Gln1189Arg) rs752039618
NM_000267.3(NF1):c.3636C>A (p.Val1212=) rs145126193
NM_000267.3(NF1):c.3668T>G (p.Ile1223Arg) rs1555615091
NM_000267.3(NF1):c.3679C>G (p.Leu1227Val) rs876660431
NM_000267.3(NF1):c.3686A>G (p.Asn1229Ser) rs140523180
NM_000267.3(NF1):c.369C>G (p.Thr123=) rs146691765
NM_000267.3(NF1):c.3732T>A (p.Val1244=) rs756653022
NM_000267.3(NF1):c.3757_3797del (p.Leu1253fs) rs1555615447
NM_000267.3(NF1):c.3790G>T (p.Glu1264Ter) rs863224660
NM_000267.3(NF1):c.3826C>G (p.Arg1276Gly) rs199474742
NM_000267.3(NF1):c.3867C>T (p.Phe1289=) rs138186428
NM_000267.3(NF1):c.3883A>G (p.Thr1295Ala) rs143836226
NM_000267.3(NF1):c.3974+38T>G rs9894862
NM_000267.3(NF1):c.3974+9T>A rs368586596
NM_000267.3(NF1):c.4069T>C (p.Phe1357Leu) rs1207255352
NM_000267.3(NF1):c.4110+14T>C rs1019229165
NM_000267.3(NF1):c.4132C>T (p.Gln1378Ter) rs1131691072
NM_000267.3(NF1):c.4167C>T (p.Phe1389=) rs750213850
NM_000267.3(NF1):c.4194C>T (p.Val1398=) rs886038395
NM_000267.3(NF1):c.4206A>G (p.Glu1402=) rs17886566
NM_000267.3(NF1):c.4299C>T (p.Leu1433=) rs864622298
NM_000267.3(NF1):c.4368-21_4368-19dup rs760117122
NM_000267.3(NF1):c.4368-46G>C rs17881285
NM_000267.3(NF1):c.4440C>T (p.Asp1480=) rs577394398
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.4515-39A>G rs8072417
NM_000267.3(NF1):c.4561C>G (p.Leu1521Val) rs1555619011
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.4661+11A>G rs368649260
NM_000267.3(NF1):c.4662-13A>G rs759742216
NM_000267.3(NF1):c.4662-3T>C rs892441625
NM_000267.3(NF1):c.4686A>G (p.Glu1562=) rs144091165
NM_000267.3(NF1):c.4689C>T (p.Phe1563=) rs876657545
NM_000267.3(NF1):c.4772+36T>C rs16972128
NM_000267.3(NF1):c.4772+3A>G rs1417732851
NM_000267.3(NF1):c.4772G>T (p.Arg1591Met) rs1555619423
NM_000267.3(NF1):c.4773-3T>C rs372460369
NM_000267.3(NF1):c.4788A>G (p.Gln1596=) rs150309802
NM_000267.3(NF1):c.4797T>C (p.Gly1599=) rs864622747
NM_000267.3(NF1):c.480G>A (p.Arg160=) rs1555607071
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>G (p.Leu1610Ter) rs1555533292
NM_000267.3(NF1):c.4866G>A (p.Val1622=) rs17880521
NM_000267.3(NF1):c.4881C>T (p.Thr1627=) rs759291615
NM_000267.3(NF1):c.4956C>T (p.Asn1652=) rs767699634
NM_000267.3(NF1):c.4972A>G (p.Ile1658Val) rs147327414
NM_000267.3(NF1):c.4986C>T (p.Asn1662=) rs140994965
NM_000267.3(NF1):c.5071C>A (p.Pro1691Thr) rs1567611556
NM_000267.3(NF1):c.5097G>T (p.Glu1699Asp) rs773378630
NM_000267.3(NF1):c.5166T>C (p.Ala1722=) rs876657546
NM_000267.3(NF1):c.5172G>A (p.Lys1724=) rs17887014
NM_000267.3(NF1):c.5205+23T>C rs9894648
NM_000267.3(NF1):c.5270_5271del (p.Phe1757fs) rs1555533566
NM_000267.3(NF1):c.528T>A (p.Asp176Glu) rs112306990
NM_000267.3(NF1):c.5361G>A (p.Thr1787=) rs765841113
NM_000267.3(NF1):c.5418C>G (p.Ile1806Met) rs1555533607
NM_000267.3(NF1):c.5446G>A (p.Asp1816Asn) rs771597781
NM_000267.3(NF1):c.551del (p.Asn184fs) rs1555607102
NM_000267.3(NF1):c.5546+19T>A rs2285894
NM_000267.3(NF1):c.5586C>T (p.Thr1862=) rs139696493
NM_000267.3(NF1):c.5601C>T (p.Ile1867=) rs373685150
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.5702_5703del (p.Leu1901fs) rs1555533880
NM_000267.3(NF1):c.5717del (p.Leu1906fs) rs1135402880
NM_000267.3(NF1):c.5730T>C (p.Ile1910=) rs779114598
NM_000267.3(NF1):c.5749+8A>G rs372075322
NM_000267.3(NF1):c.5820G>A (p.Lys1940=) rs144808600
NM_000267.3(NF1):c.584A>G (p.Lys195Arg) rs587778552
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.594A>T (p.Ala198=) rs138411879
NM_000267.3(NF1):c.5997A>G (p.Thr1999=) rs761889172
NM_000267.3(NF1):c.60+35G>A rs749185009
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.6085-29delT rs398100472
NM_000267.3(NF1):c.6098T>A (p.Met2033Lys) rs1555534665
NM_000267.3(NF1):c.61-13delC rs1215659707
NM_000267.3(NF1):c.61-14delT rs376172637
NM_000267.3(NF1):c.61-4delT rs551568608
NM_000267.3(NF1):c.6108A>T (p.Ile2036=) rs140733963
NM_000267.3(NF1):c.6109A>G (p.Ile2037Val) rs201712827
NM_000267.3(NF1):c.624G>A (p.Ala208=) rs370184932
NM_000267.3(NF1):c.6271G>A (p.Ala2091Thr) rs749672954
NM_000267.3(NF1):c.6302C>T (p.Thr2101Ile) rs878853907
NM_000267.3(NF1):c.6303A>G (p.Thr2101=) rs876657547
NM_000267.3(NF1):c.6310_6313del (p.Leu2104fs) rs1555534755
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>T rs374014162
NM_000267.3(NF1):c.6465T>C (p.Ile2155=) rs147522129
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.654+1G>A rs1060500245
NM_000267.3(NF1):c.655-29T>C rs182325576
NM_000267.3(NF1):c.6554C>T (p.Thr2185Ile) rs1555534885
NM_000267.3(NF1):c.6565T>C (p.Leu2189=) rs138265293
NM_000267.3(NF1):c.6579+45T>A rs17883614
NM_000267.3(NF1):c.662G>A (p.Trp221Ter) rs1131691126
NM_000267.3(NF1):c.6669G>A (p.Leu2223=) rs876657548
NM_000267.3(NF1):c.6756+5C>A rs876659499
NM_000267.3(NF1):c.6756+6T>C rs1407700643
NM_000267.3(NF1):c.6858+10G>A rs767166725
NM_000267.3(NF1):c.6858+40A>G rs188244160
NM_000267.3(NF1):c.6859-16A>G rs202158964
NM_000267.3(NF1):c.6866C>T (p.Pro2289Leu) rs148736217
NM_000267.3(NF1):c.6915T>C (p.Asp2305=) rs1135402896
NM_000267.3(NF1):c.6963G>A (p.Leu2321=) rs371581213
NM_000267.3(NF1):c.696A>G (p.Thr232=) rs368691517
NM_000267.3(NF1):c.702G>A (p.Leu234=) rs1801052
NM_000267.3(NF1):c.7054C>T (p.Gln2352Ter) rs1555535417
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.7127-33TTGT[3] rs149197458
NM_000267.3(NF1):c.7127-33TTGT[5] rs149197458
NM_000267.3(NF1):c.7128G>A (p.Gly2376=) rs773474652
NM_000267.3(NF1):c.7221A>G (p.Lys2407=) rs1555536034
NM_000267.3(NF1):c.7225G>T (p.Glu2409Ter) rs1555536035
NM_000267.3(NF1):c.7259-17C>T rs17884859
NM_000267.3(NF1):c.7281A>G (p.Glu2427=) rs374234848
NM_000267.3(NF1):c.730+2T>G rs200962248
NM_000267.3(NF1):c.730+32delT rs71142032
NM_000267.3(NF1):c.7305A>G (p.Lys2435=) rs201287021
NM_000267.3(NF1):c.731-1_731delGA rs1555608925
NM_000267.3(NF1):c.731-6A>C rs369366499
NM_000267.3(NF1):c.731-8delT rs1438618408
NM_000267.3(NF1):c.7347T>C (p.Asn2449=) rs17881903
NM_000267.3(NF1):c.7376A>G (p.His2459Arg) rs371151718
NM_000267.3(NF1):c.7395-29G>A rs964288
NM_000267.3(NF1):c.7398A>G (p.Thr2466=) rs149924365
NM_000267.3(NF1):c.7411C>T (p.Gln2471Ter) rs1555536340
NM_000267.3(NF1):c.7416A>G (p.Pro2472=) rs144957306
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.7521A>G (p.Gln2507=) rs55865524
NM_000267.3(NF1):c.7532C>T (p.Ala2511Val) rs148154172
NM_000267.3(NF1):c.7552+24delA rs754290122
NM_000267.3(NF1):c.7553-9T>C rs1555536631
NM_000267.3(NF1):c.7675+46G>A rs199641099
NM_000267.3(NF1):c.7676-33G>A rs199706010
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.7774C>G (p.Pro2592Ala) rs138839077
NM_000267.3(NF1):c.7852C>G (p.Leu2618Val) rs1057518362
NM_000267.3(NF1):c.7907+1G>A rs1555536773
NM_000267.3(NF1):c.7908-19G>T rs17887156
NM_000267.3(NF1):c.7908-8delT rs564545012
NM_000267.3(NF1):c.7925C>T (p.Ser2642Phe) rs786202579
NM_000267.3(NF1):c.7968G>A (p.Leu2656=) rs1555536905
NM_000267.3(NF1):c.8042A>T (p.Tyr2681Phe) rs201824349
NM_000267.3(NF1):c.8050+20G>A rs55747230
NM_000267.3(NF1):c.8076G>A (p.Arg2692=) rs139527415
NM_000267.3(NF1):c.8088G>A (p.Pro2696=) rs2285895
NM_000267.3(NF1):c.8098-34delA rs528599051
NM_000267.3(NF1):c.8098-45A>C rs17879551
NM_000267.3(NF1):c.8099A>G (p.Gln2700Arg) rs876657933
NM_000267.3(NF1):c.8314+20A>G rs201289884
NM_000267.3(NF1):c.8315-9T>C rs1453787016
NM_000267.3(NF1):c.8388C>T (p.Ser2796=) rs547090599
NM_000267.3(NF1):c.839T>C (p.Ile280Thr) rs1555608976
NM_000267.3(NF1):c.8415C>T (p.Ser2805=) rs770148738
NM_000267.3(NF1):c.8416G>A (p.Ala2806Thr) rs199878086
NM_000267.3(NF1):c.8436T>C (p.Asn2812=) rs142636150
NM_000267.3(NF1):c.8452G>A (p.Val2818Met) rs368149035
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.862G>A (p.Val288Met) rs755670651
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.959C>A (p.Ala320Asp) rs1555610884
NM_001042492.2(NF1):c.1528-29dupT rs398119783
NM_001042492.2(NF1):c.4119C>T (p.Cys1373=) rs886038394
NM_001042492.2(NF1):c.5813-40_5813-39dupTT rs886038397
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
NM_001042492.2(NF1):c.889-25_889-21delTTATC rs17881173

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