ClinVar Miner

List of variants in gene NF1 reported as pathogenic by ARUP Laboratories, Molecular Genetics and Genomics, ARUP Laboratories

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Gene type:
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Total variants: 79
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HGVS dbSNP
NM_000267.3(NF1):c.1009G>T (p.Glu337Ter) rs747241884
NM_000267.3(NF1):c.1094C>G (p.Ser365Ter) rs864622107
NM_000267.3(NF1):c.1178del (p.His393fs) rs1555611037
NM_000267.3(NF1):c.1185+2T>G rs1555611043
NM_000267.3(NF1):c.1246C>T (p.Arg416Ter) rs764079291
NM_000267.3(NF1):c.1381C>T (p.Arg461Ter) rs878853865
NM_000267.3(NF1):c.1466A>G (p.Tyr489Cys) rs137854557
NM_000267.3(NF1):c.1467T>A (p.Tyr489Ter) rs1567841799
NM_000267.3(NF1):c.1541_1542del (p.Gln514fs) rs267606600
NM_000267.3(NF1):c.1660C>T (p.Gln554Ter) rs953440640
NM_000267.3(NF1):c.1672del (p.Ile558fs) rs1567845057
NM_000267.3(NF1):c.1783_1784del (p.Glu595fs) rs786204059
NM_000267.3(NF1):c.1885G>A (p.Gly629Arg) rs199474738
NM_000267.3(NF1):c.204+1G>A rs886039548
NM_000267.3(NF1):c.2041C>T (p.Arg681Ter) rs768638173
NM_000267.3(NF1):c.2077_2078del (p.Met693fs) rs1555613795
NM_000267.3(NF1):c.2325+1G>A rs1555613933
NM_000267.3(NF1):c.2331G>A (p.Trp777Ter) rs1555613983
NM_000267.3(NF1):c.2339C>A (p.Thr780Lys) rs199474746
NM_000267.3(NF1):c.2407C>T (p.Gln803Ter) rs1567848213
NM_000267.3(NF1):c.2674del (p.Ser892fs) rs1555614296
NM_000267.3(NF1):c.2842C>T (p.Gln948Ter) rs1567849237
NM_000267.3(NF1):c.2848C>T (p.Gln950Ter) rs1060500357
NM_000267.3(NF1):c.2991-1G>A rs1060500273
NM_000267.3(NF1):c.3076A>T (p.Arg1026Ter) rs1555614529
NM_000267.3(NF1):c.334C>T (p.Gln112Ter) rs1555606061
NM_000267.3(NF1):c.3537del (p.Phe1179fs) rs1555615026
NM_000267.3(NF1):c.3665del (p.Pro1222fs) rs867391752
NM_000267.3(NF1):c.3721C>T (p.Arg1241Ter) rs137854562
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.3974+1G>A rs1567852849
NM_000267.3(NF1):c.4078C>T (p.Gln1360Ter) rs1555617368
NM_000267.3(NF1):c.4084C>T (p.Arg1362Ter) rs137854560
NM_000267.3(NF1):c.4132C>T (p.Gln1378Ter) rs1131691072
NM_000267.3(NF1):c.4514+1G>A rs1279529138
NM_000267.3(NF1):c.4537C>T (p.Arg1513Ter) rs760703505
NM_000267.3(NF1):c.4829T>G (p.Leu1610Ter) rs1555533292
NM_000267.3(NF1):c.5054_5055insA (p.Val1686fs) rs1567611534
NM_000267.3(NF1):c.5270_5271del (p.Phe1757fs) rs1555533566
NM_000267.3(NF1):c.5425C>T (p.Arg1809Cys) rs797045139
NM_000267.3(NF1):c.551del (p.Asn184fs) rs1555607102
NM_000267.3(NF1):c.5702_5703del (p.Leu1901fs) rs1555533880
NM_000267.3(NF1):c.5717del (p.Leu1906fs) rs1135402880
NM_000267.3(NF1):c.5792G>A (p.Trp1931Ter) rs1567615766
NM_000267.3(NF1):c.5875del (p.Thr1959fs) rs1567615852
NM_000267.3(NF1):c.6310_6313del (p.Leu2104fs) rs1555534755
NM_000267.3(NF1):c.654+1G>A rs1060500245
NM_000267.3(NF1):c.662G>A (p.Trp221Ter) rs1131691126
NM_000267.3(NF1):c.6792C>A (p.Tyr2264Ter) rs772295894
NM_000267.3(NF1):c.6792C>G (p.Tyr2264Ter) rs772295894
NM_000267.3(NF1):c.7054C>T (p.Gln2352Ter) rs1555535417
NM_000267.3(NF1):c.7225G>T (p.Glu2409Ter) rs1555536035
NM_000267.3(NF1):c.7267dup (p.Thr2423fs) rs1064794278
NM_000267.3(NF1):c.7285C>T (p.Arg2429Ter) rs786202457
NM_000267.3(NF1):c.7411C>T (p.Gln2471Ter) rs1555536340
NM_000267.3(NF1):c.7486C>T (p.Arg2496Ter) rs866445127
NM_000267.3(NF1):c.7699C>T (p.Gln2567Ter) rs1555536687
NM_000267.3(NF1):c.7901del (p.Pro2634fs) rs1567627268
NM_000267.3(NF1):c.7907+1G>A rs1555536773
NM_000267.3(NF1):c.801G>A (p.Trp267Ter) rs1064794273
NM_000267.3(NF1):c.889-2A>G rs878853922
NM_000267.3(NF1):c.910C>T (p.Arg304Ter) rs786203950
NM_001042492.2(NF1):c.6852_6855del (p.Tyr2285fs) rs1555535032
NM_001042492.3(NF1):c.1532del (p.Pro511fs) rs1597703352
NM_001042492.3(NF1):c.2553C>A (p.Cys851Ter) rs2230852
NM_001042492.3(NF1):c.3217_3218delinsTTCC (p.Met1073fs) rs1597718755
NM_001042492.3(NF1):c.338del (p.Leu113fs) rs1597635740
NM_001042492.3(NF1):c.3827G>A (p.Arg1276Gln) rs137854556
NM_001042492.3(NF1):c.4015_4028del (p.Asn1338_Leu1339insTer) rs1597735056
NM_001042492.3(NF1):c.4669del (p.Thr1557fs) rs1597748891
NM_001042492.3(NF1):c.4700C>G (p.Ser1567Ter) rs1555619051
NM_001042492.3(NF1):c.5305C>T (p.Arg1769Ter) rs876657714
NM_001042492.3(NF1):c.6246del (p.Arg2083fs) rs1597842843
NM_001042492.3(NF1):c.6577_6578GA[3] (p.Glu2195fs) rs1131691084
NM_001042492.3(NF1):c.7040del (p.Ser2347fs) rs1597848220
NM_001042492.3(NF1):c.7090dup (p.Arg2364fs) rs1597851299
NM_001042492.3(NF1):c.731-1_731del rs1555608925
NM_001042492.3(NF1):c.792dup (p.Ala265fs) rs1597659896

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