ClinVar Miner

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

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Gene type:
ClinVar version:
Total variants: 159
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HGVS dbSNP gnomAD frequency
NM_001042492.3(NF1):c.2350T>C (p.Trp784Arg) rs199474730 0.00001
NM_001042492.3(NF1):c.3586C>T (p.Leu1196Phe) rs1555615039 0.00001
NM_001042492.3(NF1):c.4382T>C (p.Met1461Thr) rs754639587 0.00001
NM_001042492.3(NF1):c.1013A>G (p.Asp338Gly) rs199474773
NM_001042492.3(NF1):c.1061A>G (p.Lys354Arg) rs1135402801
NM_001042492.3(NF1):c.1062+1G>A rs1597681200
NM_001042492.3(NF1):c.1062+2T>C rs2066510391
NM_001042492.3(NF1):c.1062+3A>G rs1057521098
NM_001042492.3(NF1):c.1062G>A (p.Lys354=) rs1131691118
NM_001042492.3(NF1):c.1062G>C (p.Lys354Asn) rs1131691118
NM_001042492.3(NF1):c.1070T>G (p.Leu357Arg) rs137854563
NM_001042492.3(NF1):c.1135T>C (p.Cys379Arg) rs1060500281
NM_001042492.3(NF1):c.1186-1G>C rs876660782
NM_001042492.3(NF1):c.1229T>C (p.Leu410Pro)
NM_001042492.3(NF1):c.1235A>G (p.Asn412Ser) rs1567836090
NM_001042492.3(NF1):c.128T>C (p.Leu43Pro) rs1555604899
NM_001042492.3(NF1):c.1393-592A>G rs2066773116
NM_001042492.3(NF1):c.1527+5G>A rs1060500352
NM_001042492.3(NF1):c.1641+1G>A rs1555612866
NM_001042492.3(NF1):c.1646T>C (p.Leu549Pro) rs199474758
NM_001042492.3(NF1):c.1658A>G (p.His553Arg) rs1064794274
NM_001042492.3(NF1):c.1721+542A>G rs2066942173
NM_001042492.3(NF1):c.1721G>T (p.Ser574Ile) rs1555613206
NM_001042492.3(NF1):c.1801_1803del (p.Arg601del) rs1555613421
NM_001042492.3(NF1):c.1805_1807del (p.Glu602_Ile603delinsVal)
NM_001042492.3(NF1):c.1845G>T (p.Lys615Asn) rs1131691080
NM_001042492.3(NF1):c.2072T>C (p.Leu691Pro) rs1131691132
NM_001042492.3(NF1):c.2072T>G (p.Leu691Arg) rs1131691132
NM_001042492.3(NF1):c.2084T>C (p.Leu695Pro) rs199474761
NM_001042492.3(NF1):c.2084T>G (p.Leu695Arg) rs199474761
NM_001042492.3(NF1):c.2288T>C (p.Leu763Pro) rs199474762
NM_001042492.3(NF1):c.2326-1G>T rs1567848100
NM_001042492.3(NF1):c.2326-2A>C rs1555613975
NM_001042492.3(NF1):c.2326-3T>G rs876658946
NM_001042492.3(NF1):c.2329T>A (p.Trp777Arg) rs876658853
NM_001042492.3(NF1):c.2329T>C (p.Trp777Arg) rs876658853
NM_001042492.3(NF1):c.2338A>C (p.Thr780Pro) rs1205746953
NM_001042492.3(NF1):c.2339C>G (p.Thr780Arg) rs199474746
NM_001042492.3(NF1):c.2342A>C (p.His781Pro) rs199474763
NM_001042492.3(NF1):c.248A>C (p.Gln83Pro) rs1060500360
NM_001042492.3(NF1):c.2681T>C (p.Phe894Ser) rs1282493551
NM_001042492.3(NF1):c.2693T>C (p.Leu898Pro) rs199474786
NM_001042492.3(NF1):c.2693TGT[1] (p.Leu899del) rs1064796946
NM_001042492.3(NF1):c.277T>C (p.Cys93Arg) rs1555605398
NM_001042492.3(NF1):c.2791_2800del (p.Pro931fs) rs1064795730
NM_001042492.3(NF1):c.2798T>C (p.Leu933Pro) rs1555614342
NM_001042492.3(NF1):c.2850+1G>T rs1131691122
NM_001042492.3(NF1):c.288+4A>G rs781459468
NM_001042492.3(NF1):c.288+5G>A rs1555605409
NM_001042492.3(NF1):c.288G>A (p.Gly96=) rs1430988476
NM_001042492.3(NF1):c.2903T>G (p.Met968Arg) rs199474749
NM_001042492.3(NF1):c.2975T>A (p.Met992Lys) rs1567849596
NM_001042492.3(NF1):c.2975T>G (p.Met992Arg) rs1567849596
NM_001042492.3(NF1):c.2984T>C (p.Leu995Pro) rs1597716466
NM_001042492.3(NF1):c.2989A>G (p.Arg997Gly) rs2067085335
NM_001042492.3(NF1):c.2990+1G>A rs1135402836
NM_001042492.3(NF1):c.2990+5G>A rs1555614464
NM_001042492.3(NF1):c.2991-11T>G
NM_001042492.3(NF1):c.2991G>T (p.Arg997Ser) rs755501749
NM_001042492.3(NF1):c.3002T>A (p.Val1001Glu) rs1131691844
NM_001042492.3(NF1):c.3047G>A (p.Cys1016Tyr) rs2067091492
NM_001042492.3(NF1):c.3104T>A (p.Met1035Lys) rs137854553
NM_001042492.3(NF1):c.3104T>C (p.Met1035Thr) rs137854553
NM_001042492.3(NF1):c.3106A>G (p.Lys1036Glu) rs1567849891
NM_001042492.3(NF1):c.3114-11C>G rs2151432318
NM_001042492.3(NF1):c.3114-2A>G rs1428885377
NM_001042492.3(NF1):c.3197+1G>A rs1555614653
NM_001042492.3(NF1):c.3197G>A (p.Arg1066Lys) rs1555614652
NM_001042492.3(NF1):c.3198-314G>A rs2067116490
NM_001042492.3(NF1):c.3212C>T (p.Ala1071Val) rs2151433685
NM_001042492.3(NF1):c.3239T>C (p.Leu1080Pro) rs1555614833
NM_001042492.3(NF1):c.3251C>G (p.Pro1084Arg) rs1164081667
NM_001042492.3(NF1):c.3295A>G (p.Lys1099Glu)
NM_001042492.3(NF1):c.3301_3302del (p.Gln1101fs) rs1555614866
NM_001042492.3(NF1):c.3311T>G (p.Leu1104Arg)
NM_001042492.3(NF1):c.3437T>A (p.Val1146Asp) rs2067137147
NM_001042492.3(NF1):c.3447G>A (p.Met1149Ile) rs1064794277
NM_001042492.3(NF1):c.3447G>C (p.Met1149Ile) rs1064794277
NM_001042492.3(NF1):c.3449C>T (p.Ser1150Leu) rs1555614972
NM_001042492.3(NF1):c.3461A>T (p.Asn1154Ile) rs371544233
NM_001042492.3(NF1):c.3496+5G>A rs786202564
NM_001042492.3(NF1):c.3544G>C (p.Val1182Leu) rs1555615027
NM_001042492.3(NF1):c.3545T>G (p.Val1182Gly)
NM_001042492.3(NF1):c.3568G>A (p.Gly1190Ser) rs1597719982
NM_001042492.3(NF1):c.3586C>G (p.Leu1196Val) rs1555615039
NM_001042492.3(NF1):c.3587T>G (p.Leu1196Arg) rs199474741
NM_001042492.3(NF1):c.3596C>T (p.Thr1199Ile) rs1555615047
NM_001042492.3(NF1):c.3641T>A (p.Met1214Lys) rs1567851416
NM_001042492.3(NF1):c.3662T>G (p.Leu1221Arg) rs1597720167
NM_001042492.3(NF1):c.3706T>C (p.Trp1236Arg) rs1555615111
NM_001042492.3(NF1):c.3708+5G>A rs1597720280
NM_001042492.3(NF1):c.3728T>C (p.Leu1243Pro) rs137854564
NM_001042492.3(NF1):c.3831C>T (p.Gly1277=) rs1597722611
NM_001042492.3(NF1):c.3834C>G (p.Asn1278Lys) rs1135402850
NM_001042492.3(NF1):c.3875A>G (p.Tyr1292Cys) rs1060500243
NM_001042492.3(NF1):c.3974+260T>G rs1567853044
NM_001042492.3(NF1):c.412G>C (p.Ala138Pro) rs1597635936
NM_001042492.3(NF1):c.4231C>T (p.Leu1411Phe) rs199474789
NM_001042492.3(NF1):c.4243A>C (p.Asn1415His) rs1555618518
NM_001042492.3(NF1):c.4318A>C (p.Lys1440Gln) rs199474790
NM_001042492.3(NF1):c.4328C>T (p.Ser1443Leu) rs1555618566
NM_001042492.3(NF1):c.4332G>A (p.Lys1444=) rs199474750
NM_001042492.3(NF1):c.4332G>T (p.Lys1444Asn) rs199474750
NM_001042492.3(NF1):c.4337T>C (p.Leu1446Pro) rs199474733
NM_001042492.3(NF1):c.4341G>C (p.Gln1447His) rs876660206
NM_001042492.3(NF1):c.4352A>T (p.Asn1451Ile) rs199474754
NM_001042492.3(NF1):c.4369_4371del (p.Lys1457del) rs1555618653
NM_001042492.3(NF1):c.4382T>A (p.Met1461Lys) rs754639587
NM_001042492.3(NF1):c.4382T>G (p.Met1461Arg) rs754639587
NM_001042492.3(NF1):c.4532T>C (p.Leu1511Pro) rs1135402864
NM_001042492.3(NF1):c.4544A>G (p.Gln1515Arg) rs1135402865
NM_001042492.3(NF1):c.4578-1G>C rs1555618999
NM_001042492.3(NF1):c.4627C>T (p.Leu1543Phe) rs2151466305
NM_001042492.3(NF1):c.4724G>C (p.Arg1575Thr) rs2151466553
NM_001042492.3(NF1):c.4834A>G (p.Arg1612Gly) rs755137259
NM_001042492.3(NF1):c.4835+1G>T rs1085307819
NM_001042492.3(NF1):c.4877A>C (p.His1626Pro)
NM_001042492.3(NF1):c.4880T>A (p.Val1627Asp) rs1567611231
NM_001042492.3(NF1):c.5247dup (p.Asp1750fs) rs1555533409
NM_001042492.3(NF1):c.5268+1G>A
NM_001042492.3(NF1):c.5268+3_5268+6del
NM_001042492.3(NF1):c.5311A>G (p.Lys1771Glu) rs1131691103
NM_001042492.3(NF1):c.5488C>G (p.Arg1830Gly) rs797045139
NM_001042492.3(NF1):c.5498T>C (p.Leu1833Pro) rs2151541565
NM_001042492.3(NF1):c.5534T>G (p.Ile1845Ser) rs1060500339
NM_001042492.3(NF1):c.5545G>A (p.Asp1849Asn) rs2151541722
NM_001042492.3(NF1):c.5546A>T (p.Asp1849Val) rs1170679293
NM_001042492.3(NF1):c.5551C>T (p.Pro1851Ser) rs267604793
NM_001042492.3(NF1):c.5610-3T>G
NM_001042492.3(NF1):c.5652T>A (p.Phe1884Leu) rs1567613616
NM_001042492.3(NF1):c.5744T>C (p.Leu1915Pro) rs1555533875
NM_001042492.3(NF1):c.5788T>C (p.Cys1930Arg) rs2069454402
NM_001042492.3(NF1):c.586delinsTTAA (p.Glu196delinsLeuLys) rs1555607123
NM_001042492.3(NF1):c.6007-1G>C rs1555534596
NM_001042492.3(NF1):c.6007-1G>T rs1555534596
NM_001042492.3(NF1):c.6023A>G (p.Asp2008Gly) rs2069668717
NM_001042492.3(NF1):c.61-2A>G rs1131691100
NM_001042492.3(NF1):c.6109G>A (p.Ala2037Thr) rs1555534612
NM_001042492.3(NF1):c.6350_6353del (p.Ser2117fs) rs1064795492
NM_001042492.3(NF1):c.6427+5G>A rs1060500311
NM_001042492.3(NF1):c.660_665del (p.Asn222_Trp223del) rs1064796137
NM_001042492.3(NF1):c.6642+18A>G rs1555534893
NM_001042492.3(NF1):c.6642G>C (p.Glu2214Asp) rs876660207
NM_001042492.3(NF1):c.667T>C (p.Trp223Arg) rs1555608740
NM_001042492.3(NF1):c.6921+3A>G rs1085307885
NM_001042492.3(NF1):c.6921+4A>G rs752841251
NM_001042492.3(NF1):c.7063-4A>G rs749805168
NM_001042492.3(NF1):c.7189G>A (p.Gly2397Arg) rs1135402900
NM_001042492.3(NF1):c.7226C>T (p.Thr2409Ile) rs1597858415
NM_001042492.3(NF1):c.723_731del (p.Asp241_Ala243del) rs1567826158
NM_001042492.3(NF1):c.7246CTA[1] (p.Leu2417del) rs1555536023
NM_001042492.3(NF1):c.7317AGC[1] (p.Ala2441del) rs1085307506
NM_001042492.3(NF1):c.746T>C (p.Leu249Pro) rs1567826623
NM_001042492.3(NF1):c.7577dup (p.Met2526fs) rs1555536367
NM_001042492.3(NF1):c.7970+5G>A rs1567627286
NM_001042492.3(NF1):c.7970+5G>T rs1567627286
NM_001042492.3(NF1):c.809A>C (p.Gln270Pro)
NM_001042492.3(NF1):c.888+789A>G rs1597660974
NM_001042492.3(NF1):c.972T>A (p.Cys324Ter) rs1597680938

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