ClinVar Miner

List of variants in gene NF1 reported as likely pathogenic by Invitae

Minimum submission review status: Collection method:
Minimum conflict level:
Gene type:
ClinVar version:
Total variants: 276
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HGVS dbSNP gnomAD frequency
NM_001042492.3(NF1):c.3586C>T (p.Leu1196Phe) rs1555615039 0.00001
NC_000017.10:g.(?_29475515)_(29490414_?)dup
NC_000017.10:g.(?_29482991)_(29548957_?)dup
NC_000017.10:g.(?_29508426)_(29510472_?)dup
NC_000017.10:g.(?_29540877)_(29563299_?)dup
NC_000017.10:g.(?_29541449)_(29557963_?)dup
NC_000017.10:g.(?_29556023)_(29563059_?)dup
NC_000017.10:g.(?_29556977)_(29561861_?)del
NC_000017.10:g.(?_29562619)_(29563299_?)dup
NC_000017.10:g.(?_29575982)_(29587553_?)del
NC_000017.10:g.(?_29575992)_(29587543_?)del
NC_000017.10:g.(?_29585352)_(29588885_?)dup
NC_000017.10:g.(?_29652828)_(29657526_?)dup
NC_000017.10:g.(?_29663341)_(29665833_?)del
NC_000017.10:g.(?_29679379)_(29680920_?)del
NC_000017.11:g.(?_31169881)_(31249129_?)dup
NC_000017.11:g.(?_31336313)_(31340665_?)del
NC_000017.11:g.(?_31342999)_(31360713_?)del
NM_000267.3(NF1):c.3015_3315-230del
NM_000267.3(NF1):c.5944-?_6858+?del
NM_001042492.3(NF1):c.1061_1062+12del
NM_001042492.3(NF1):c.1062+2dup rs2066510417
NM_001042492.3(NF1):c.1062G>C (p.Lys354Asn) rs1131691118
NM_001042492.3(NF1):c.1062G>T (p.Lys354Asn) rs1131691118
NM_001042492.3(NF1):c.1062_1062+6del rs2066510244
NM_001042492.3(NF1):c.1063-3_1063del
NM_001042492.3(NF1):c.1139T>A (p.Leu380His) rs1555611004
NM_001042492.3(NF1):c.1183_1185+2del rs1555611039
NM_001042492.3(NF1):c.1185G>A (p.Lys395=) rs1567835847
NM_001042492.3(NF1):c.1186-2A>G rs1373365576
NM_001042492.3(NF1):c.122A>T (p.Glu41Val) rs786203038
NM_001042492.3(NF1):c.1251_1260+25del rs2066528976
NM_001042492.3(NF1):c.1260+1del rs2143887087
NM_001042492.3(NF1):c.1260+2_1260+3insTT rs1597682922
NM_001042492.3(NF1):c.1260+5G>C rs1060500253
NM_001042492.3(NF1):c.128T>A (p.Leu43Gln) rs1555604899
NM_001042492.3(NF1):c.1328T>C (p.Phe443Ser) rs1555611581
NM_001042492.3(NF1):c.1392+2del rs1597689068
NM_001042492.3(NF1):c.1393-3_1393-2del rs2066785062
NM_001042492.3(NF1):c.1393-592A>G rs2066773116
NM_001042492.3(NF1):c.1393-5_1398del rs2143958483
NM_001042492.3(NF1):c.1393-7_1393-2del
NM_001042492.3(NF1):c.140C>T (p.Ser47Phe)
NM_001042492.3(NF1):c.1513A>G (p.Lys505Glu) rs2066787606
NM_001042492.3(NF1):c.1527+5G>T rs1060500352
NM_001042492.3(NF1):c.1528-2A>C rs1368005133
NM_001042492.3(NF1):c.1528-2A>G rs1368005133
NM_001042492.3(NF1):c.1585C>T (p.Leu529Phe) rs1135402816
NM_001042492.3(NF1):c.1586T>G (p.Leu529Arg)
NM_001042492.3(NF1):c.1634C>A (p.Ala545Glu)
NM_001042492.3(NF1):c.1642-10A>G rs1597706578
NM_001042492.3(NF1):c.1655T>A (p.Leu552His)
NM_001042492.3(NF1):c.1655T>C (p.Leu552Pro) rs1555613193
NM_001042492.3(NF1):c.1657C>G (p.His553Asp)
NM_001042492.3(NF1):c.1720A>G (p.Ser574Gly)
NM_001042492.3(NF1):c.1730T>G (p.Met577Arg)
NM_001042492.3(NF1):c.173T>C (p.Leu58Pro) rs1597626094
NM_001042492.3(NF1):c.173T>G (p.Leu58Arg) rs1597626094
NM_001042492.3(NF1):c.1745G>T (p.Cys582Phe) rs2066962321
NM_001042492.3(NF1):c.175A>C (p.Thr59Pro)
NM_001042492.3(NF1):c.1808T>A (p.Ile603Lys) rs2144016800
NM_001042492.3(NF1):c.1845+3_1845+4insGGGCCGGGCGCGGTGGCTCACGCCTGTAATCCCAGCACTTTGGGAGGCCGAGGCGGGCGGATCACGAGGTCNNNNNNNNNNAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAATAAGGTA
NM_001042492.3(NF1):c.2001+1G>A rs2066994053
NM_001042492.3(NF1):c.2002-2_2002-1del rs2151425505
NM_001042492.3(NF1):c.2002-4_2010del rs878853871
NM_001042492.3(NF1):c.2072T>C (p.Leu691Pro) rs1131691132
NM_001042492.3(NF1):c.2342A>C (p.His781Pro) rs199474763
NM_001042492.3(NF1):c.2350T>G (p.Trp784Gly)
NM_001042492.3(NF1):c.2375T>A (p.Leu792His) rs1597713777
NM_001042492.3(NF1):c.2396_2409+4del rs2067039276
NM_001042492.3(NF1):c.243_254delinsTGAGAGAGA (p.Ser82_Ile85delinsGluArgAsp) rs1597629809
NM_001042492.3(NF1):c.2509T>C (p.Trp837Arg) rs587781747
NM_001042492.3(NF1):c.2534G>T (p.Cys845Phe) rs1060500367
NM_001042492.3(NF1):c.2693T>A (p.Leu898Gln) rs199474786
NM_001042492.3(NF1):c.2851-1_2857del
NM_001042492.3(NF1):c.2870_2871delinsTC (p.Asn957Ile) rs2151430516
NM_001042492.3(NF1):c.288G>A (p.Gly96=) rs1430988476
NM_001042492.3(NF1):c.2894T>A (p.Ile965Lys) rs1555614438
NM_001042492.3(NF1):c.2894T>G (p.Ile965Arg) rs1555614438
NM_001042492.3(NF1):c.2915T>C (p.Leu972Pro) rs1597716348
NM_001042492.3(NF1):c.2972T>G (p.Met991Arg) rs1060500298
NM_001042492.3(NF1):c.2990+1del
NM_001042492.3(NF1):c.2990G>A (p.Arg997Lys) rs1555614462
NM_001042492.3(NF1):c.2990G>C (p.Arg997Thr) rs1555614462
NM_001042492.3(NF1):c.2990G>T (p.Arg997Met) rs1555614462
NM_001042492.3(NF1):c.2991-11T>G
NM_001042492.3(NF1):c.2991-3T>G rs1597716778
NM_001042492.3(NF1):c.2991-8_3000del rs2067089729
NM_001042492.3(NF1):c.2991G>C (p.Arg997Ser) rs755501749
NM_001042492.3(NF1):c.2991G>T (p.Arg997Ser) rs755501749
NM_001042492.3(NF1):c.3047G>T (p.Cys1016Phe) rs2067091492
NM_001042492.3(NF1):c.3048T>G (p.Cys1016Trp) rs1135402840
NM_001042492.3(NF1):c.3104T>A (p.Met1035Lys) rs137854553
NM_001042492.3(NF1):c.3113+2del
NM_001042492.3(NF1):c.3113+5G>T
NM_001042492.3(NF1):c.3114-1G>A rs1555614611
NM_001042492.3(NF1):c.3114-2A>G rs1428885377
NM_001042492.3(NF1):c.3118A>G (p.Lys1040Glu) rs1555614619
NM_001042492.3(NF1):c.3119A>C (p.Lys1040Thr)
NM_001042492.3(NF1):c.3197+2del rs1597717694
NM_001042492.3(NF1):c.3197+491_3384del
NM_001042492.3(NF1):c.3250C>A (p.Pro1084Thr) rs1555614848
NM_001042492.3(NF1):c.3250C>G (p.Pro1084Ala) rs1555614848
NM_001042492.3(NF1):c.3251C>T (p.Pro1084Leu) rs1164081667
NM_001042492.3(NF1):c.3295A>G (p.Lys1099Glu)
NM_001042492.3(NF1):c.3315-8T>G rs764783865
NM_001042492.3(NF1):c.3317A>G (p.Tyr1106Cys) rs1567850987
NM_001042492.3(NF1):c.3436G>C (p.Val1146Leu) rs201047812
NM_001042492.3(NF1):c.3446T>G (p.Met1149Arg) rs1131691121
NM_001042492.3(NF1):c.3467A>C (p.Asn1156Thr) rs199474764
NM_001042492.3(NF1):c.3468C>A (p.Asn1156Lys) rs147955381
NM_001042492.3(NF1):c.3479G>A (p.Gly1160Asp) rs2067138342
NM_001042492.3(NF1):c.3497-1G>A rs1555615004
NM_001042492.3(NF1):c.3497-2A>T
NM_001042492.3(NF1):c.3503G>A (p.Gly1168Asp) rs2151435263
NM_001042492.3(NF1):c.3509A>T (p.His1170Leu) rs1597719889
NM_001042492.3(NF1):c.350T>G (p.Ile117Ser) rs199474731
NM_001042492.3(NF1):c.3545T>C (p.Val1182Ala) rs2067142076
NM_001042492.3(NF1):c.3560T>G (p.Leu1187Arg) rs2151435424
NM_001042492.3(NF1):c.3572C>G (p.Thr1191Arg) rs2151435462
NM_001042492.3(NF1):c.3572C>T (p.Thr1191Ile)
NM_001042492.3(NF1):c.3577T>A (p.Phe1193Ile) rs2151435475
NM_001042492.3(NF1):c.3577T>G (p.Phe1193Val)
NM_001042492.3(NF1):c.3595A>C (p.Thr1199Pro)
NM_001042492.3(NF1):c.3596C>G (p.Thr1199Arg) rs1555615047
NM_001042492.3(NF1):c.3623T>G (p.Leu1208Trp) rs1060500374
NM_001042492.3(NF1):c.3641T>G (p.Met1214Arg) rs1567851416
NM_001042492.3(NF1):c.3649G>A (p.Asp1217Asn)
NM_001042492.3(NF1):c.3650A>T (p.Asp1217Val)
NM_001042492.3(NF1):c.3708+5G>A rs1597720280
NM_001042492.3(NF1):c.3709_3714del (p.Asp1237_Glu1238del) rs2151437703
NM_001042492.3(NF1):c.3716T>G (p.Leu1239Arg) rs1597722390
NM_001042492.3(NF1):c.3728T>C (p.Leu1243Pro) rs137854564
NM_001042492.3(NF1):c.3728T>G (p.Leu1243Arg) rs137854564
NM_001042492.3(NF1):c.3737T>C (p.Leu1246Pro) rs2151437777
NM_001042492.3(NF1):c.3772T>C (p.Trp1258Arg) rs1597722508
NM_001042492.3(NF1):c.3790G>A (p.Glu1264Lys) rs863224660
NM_001042492.3(NF1):c.3832A>T (p.Asn1278Tyr) rs1306874240
NM_001042492.3(NF1):c.3833A>T (p.Asn1278Ile) rs2067188951
NM_001042492.3(NF1):c.3849AAT[1] (p.Ile1284del)
NM_001042492.3(NF1):c.3870G>C (p.Lys1290Asn) rs1555615497
NM_001042492.3(NF1):c.3974+2T>C rs1555615567
NM_001042492.3(NF1):c.3975-11_3978del
NM_001042492.3(NF1):c.4027A>C (p.Thr1343Pro) rs2151451431
NM_001042492.3(NF1):c.4110+1del rs2151451697
NM_001042492.3(NF1):c.4174-2del rs2151461734
NM_001042492.3(NF1):c.4226T>G (p.Met1409Arg) rs1555618508
NM_001042492.3(NF1):c.4235G>A (p.Arg1412Lys)
NM_001042492.3(NF1):c.4236A>C (p.Arg1412Ser) rs137854554
NM_001042492.3(NF1):c.4243A>G (p.Asn1415Asp) rs1555618518
NM_001042492.3(NF1):c.4243A>T (p.Asn1415Tyr) rs1555618518
NM_001042492.3(NF1):c.4256T>A (p.Val1419Asp) rs1555618528
NM_001042492.3(NF1):c.4321T>G (p.Leu1441Val)
NM_001042492.3(NF1):c.4348G>A (p.Ala1450Thr) rs2151462979
NM_001042492.3(NF1):c.4370A>G (p.Lys1457Arg) rs1555618656
NM_001042492.3(NF1):c.4371A>T (p.Lys1457Asn) rs1555618658
NM_001042492.3(NF1):c.4381A>G (p.Met1461Val) rs1555618675
NM_001042492.3(NF1):c.4382T>G (p.Met1461Arg) rs754639587
NM_001042492.3(NF1):c.4383G>A (p.Met1461Ile) rs1555618677
NM_001042492.3(NF1):c.4397_4423del (p.Asp1466_Ala1474del) rs2151463132
NM_001042492.3(NF1):c.4430+2T>C rs1555618693
NM_001042492.3(NF1):c.4431-9T>G rs1597746884
NM_001042492.3(NF1):c.4532T>G (p.Leu1511Arg) rs1135402864
NM_001042492.3(NF1):c.4544A>G (p.Gln1515Arg) rs1135402865
NM_001042492.3(NF1):c.4606T>G (p.Phe1536Val)
NM_001042492.3(NF1):c.4634_4636del (p.Tyr1545del)
NM_001042492.3(NF1):c.4725-15_4725-3del rs2151469964
NM_001042492.3(NF1):c.4779C>A (p.Phe1593Leu) rs2151470179
NM_001042492.3(NF1):c.4786G>C (p.Ala1596Pro) rs2151470213
NM_001042492.3(NF1):c.479+1_479+1356del
NM_001042492.3(NF1):c.479+5G>C rs1567818033
NM_001042492.3(NF1):c.479+5G>T rs1567818033
NM_001042492.3(NF1):c.480-5_482del
NM_001042492.3(NF1):c.4829C>A (p.Ala1610Glu)
NM_001042492.3(NF1):c.4868T>C (p.Leu1623Pro) rs2151537585
NM_001042492.3(NF1):c.4930G>A (p.Asp1644Asn) rs1131691123
NM_001042492.3(NF1):c.4930G>T (p.Asp1644Tyr) rs1131691123
NM_001042492.3(NF1):c.4931A>T (p.Asp1644Val)
NM_001042492.3(NF1):c.5032T>G (p.Tyr1678Asp)
NM_001042492.3(NF1):c.5033A>C (p.Tyr1678Ser) rs1555533347
NM_001042492.3(NF1):c.5033A>G (p.Tyr1678Cys) rs1555533347
NM_001042492.3(NF1):c.5035_5037del (p.Ile1679del) rs2151538219
NM_001042492.3(NF1):c.5188A>C (p.Thr1730Pro)
NM_001042492.3(NF1):c.5268+5G>C rs864622551
NM_001042492.3(NF1):c.5268+5G>T
NM_001042492.3(NF1):c.5269-38A>G rs2151540615
NM_001042492.3(NF1):c.5269-8C>G rs1597831805
NM_001042492.3(NF1):c.530T>A (p.Ile177Lys)
NM_001042492.3(NF1):c.530T>G (p.Ile177Arg) rs2143707493
NM_001042492.3(NF1):c.5476C>G (p.His1826Asp) rs1135402871
NM_001042492.3(NF1):c.5546A>G (p.Asp1849Gly)
NM_001042492.3(NF1):c.5561T>C (p.Leu1854Pro) rs878853903
NM_001042492.3(NF1):c.5564T>G (p.Leu1855Arg) rs2069385520
NM_001042492.3(NF1):c.556G>T (p.Asp186Tyr) rs1567820765
NM_001042492.3(NF1):c.557A>T (p.Asp186Val) rs1567820771
NM_001042492.3(NF1):c.5583T>G (p.Asn1861Lys) rs2151541871
NM_001042492.3(NF1):c.5609+5G>C rs1597832498
NM_001042492.3(NF1):c.5609_5609+1delinsAA rs2069386760
NM_001042492.3(NF1):c.5625TCT[1] (p.Leu1877del) rs1131691081
NM_001042492.3(NF1):c.5629C>A (p.Leu1877Met)
NM_001042492.3(NF1):c.5668G>C (p.Gly1890Arg) rs1597834706
NM_001042492.3(NF1):c.5767A>T (p.Thr1923Ser) rs2151544901
NM_001042492.3(NF1):c.5768C>G (p.Thr1923Arg) rs786203824
NM_001042492.3(NF1):c.5792_5812+7del
NM_001042492.3(NF1):c.5812+1del rs2151545014
NM_001042492.3(NF1):c.5812+2dup rs1597834973
NM_001042492.3(NF1):c.5812+4A>C rs1597834988
NM_001042492.3(NF1):c.5813-1G>A rs1057518974
NM_001042492.3(NF1):c.5857C>G (p.Leu1953Val)
NM_001042492.3(NF1):c.5924T>C (p.Leu1975Pro) rs1555534411
NM_001042492.3(NF1):c.6001G>A (p.Gly2001Arg) rs199474751
NM_001042492.3(NF1):c.6006G>C (p.Gln2002His) rs1555534432
NM_001042492.3(NF1):c.6023A>C (p.Asp2008Ala) rs2069668717
NM_001042492.3(NF1):c.6053G>T (p.Ser2018Ile)
NM_001042492.3(NF1):c.6119C>T (p.Ser2040Phe) rs2069671270
NM_001042492.3(NF1):c.6314A>C (p.His2105Pro) rs1555534726
NM_001042492.3(NF1):c.6398T>G (p.Leu2133Arg) rs2069690617
NM_001042492.3(NF1):c.6428-1_6428del
NM_001042492.3(NF1):c.6428-1del
NM_001042492.3(NF1):c.6428-3C>A rs374014162
NM_001042492.3(NF1):c.6507_6921+170del
NM_001042492.3(NF1):c.6617C>G (p.Thr2206Arg)
NM_001042492.3(NF1):c.6642+18A>G rs1555534893
NM_001042492.3(NF1):c.6685T>C (p.Trp2229Arg) rs1060500342
NM_001042492.3(NF1):c.6705-1del
NM_001042492.3(NF1):c.6705-3C>A rs1131691079
NM_001042492.3(NF1):c.6818A>C (p.Lys2273Thr)
NM_001042492.3(NF1):c.6819G>A (p.Lys2273=) rs1060500373
NM_001042492.3(NF1):c.6820-3A>G
NM_001042492.3(NF1):c.6845C>T (p.Pro2282Leu) rs2069743547
NM_001042492.3(NF1):c.6880_6906del (p.Thr2294_Gln2302del) rs2151559288
NM_001042492.3(NF1):c.6905_6921+8del
NM_001042492.3(NF1):c.6921+4A>G rs752841251
NM_001042492.3(NF1):c.6921G>A (p.Lys2307=) rs1057523533
NM_001042492.3(NF1):c.6921G>C (p.Lys2307Asn) rs1057523533
NM_001042492.3(NF1):c.6944T>G (p.Leu2315Arg) rs2151561538
NM_001042492.3(NF1):c.6949T>C (p.Trp2317Arg)
NM_001042492.3(NF1):c.7000G>A (p.Gly2334Ser) rs1597848100
NM_001042492.3(NF1):c.7001G>A (p.Gly2334Asp) rs2151561783
NM_001042492.3(NF1):c.7010T>G (p.Leu2337Arg) rs1555535179
NM_001042492.3(NF1):c.7063-10_7066del
NM_001042492.3(NF1):c.7063-7_7063-2del
NM_001042492.3(NF1):c.7156T>A (p.Phe2386Ile)
NM_001042492.3(NF1):c.7172T>A (p.Val2391Asp) rs2069869918
NM_001042492.3(NF1):c.7189+2_7189+6del
NM_001042492.3(NF1):c.7189G>A (p.Gly2397Arg) rs1135402900
NM_001042492.3(NF1):c.7226C>G (p.Thr2409Arg)
NM_001042492.3(NF1):c.723_730+4del
NM_001042492.3(NF1):c.7321+2T>C rs2070079311
NM_001042492.3(NF1):c.7322-1G>A rs2070102904
NM_001042492.3(NF1):c.7322-1G>C rs2070102904
NM_001042492.3(NF1):c.7322-2A>T
NM_001042492.3(NF1):c.7457+1G>A rs2151574698
NM_001042492.3(NF1):c.7457+1G>T rs2151574698
NM_001042492.3(NF1):c.7458-17T>G rs766585105
NM_001042492.3(NF1):c.7458-7_7459delinsT rs1555536334
NM_001042492.3(NF1):c.755TGG[1] (p.Val253del) rs1060500323
NM_001042492.3(NF1):c.7616-1G>A
NM_001042492.3(NF1):c.787A>G (p.Lys263Glu) rs1597659883
NM_001042492.3(NF1):c.7968_7970+2del rs2070299730
NM_001042492.3(NF1):c.7970+2dup rs1597867039
NM_001042492.3(NF1):c.7970+3A>T
NM_001042492.3(NF1):c.7970+4_7970+7del rs1064794279
NM_001042492.3(NF1):c.7970+5G>A rs1567627286
NM_001042492.3(NF1):c.7970+5G>C rs1567627286
NM_001042492.3(NF1):c.7970+5G>T rs1567627286
NM_001042492.3(NF1):c.7970+6T>C rs1555536775
NM_001042492.3(NF1):c.809A>C (p.Gln270Pro)
NM_001042492.3(NF1):c.8160+1G>A rs1555537032
NM_001042492.3(NF1):c.818T>G (p.Leu273Arg)
NM_001042492.3(NF1):c.8210C>A (p.Ala2737Asp) rs1264511763
NM_001042492.3(NF1):c.821T>G (p.Leu274Arg) rs2066157974
NM_001042492.3(NF1):c.888+2_888+5del
NM_001042492.3(NF1):c.959C>A (p.Ala320Asp) rs1555610884
NM_001042492.3(NF1):c.970T>C (p.Cys324Arg) rs199474735
NM_001042492.3(NF1):c.971G>A (p.Cys324Tyr) rs778890596

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