ClinVar Miner

List of variants in gene NF1 reported as pathogenic for not provided

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Gene type:
ClinVar version:
Total variants: 172
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HGVS dbSNP
NM_000267.3(NF1):c.1020dup (p.Val341fs) rs1555610905
NM_000267.3(NF1):c.1039C>T (p.Gln347Ter) rs1555610910
NM_000267.3(NF1):c.121G>T (p.Glu41Ter) rs1567814497
NM_000267.3(NF1):c.1243dup (p.His415fs) rs1085307728
NM_000267.3(NF1):c.1246C>T (p.Arg416Ter) rs764079291
NM_000267.3(NF1):c.1299T>G (p.Tyr433Ter) rs876660099
NM_000267.3(NF1):c.1318C>T (p.Arg440Ter) rs778405030
NM_000267.3(NF1):c.1381C>T (p.Arg461Ter) rs878853865
NM_000267.3(NF1):c.1453G>T (p.Glu485Ter) rs1131691610
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.1541del (p.Gln514fs) rs1555612815
NM_000267.3(NF1):c.1572del (p.Glu524fs) rs1085307461
NM_000267.3(NF1):c.1591C>T (p.Gln531Ter) rs1057518134
NM_000267.3(NF1):c.1642-1G>T rs1555613185
NM_000267.3(NF1):c.1660C>T (p.Gln554Ter) rs953440640
NM_000267.3(NF1):c.1672del (p.Ile558fs) rs1567845057
NM_000267.3(NF1):c.1721+1G>C
NM_000267.3(NF1):c.1726C>T (p.Gln576Ter) rs1060500278
NM_000267.3(NF1):c.1754T>G (p.Leu585Ter)
NM_000267.3(NF1):c.1756_1759del (p.Thr586fs) rs786202782
NM_000267.3(NF1):c.1863del (p.Cys622fs) rs1131691777
NM_000267.3(NF1):c.1885G>A (p.Gly629Arg) rs199474738
NM_000267.3(NF1):c.1969_1970TC[2] (p.Leu658fs) rs1064796843
NM_000267.3(NF1):c.2002-1G>A rs1555613743
NM_000267.3(NF1):c.200del (p.Asn67fs) rs1555604942
NM_000267.3(NF1):c.2033dup (p.Ile679fs) rs587781807
NM_000267.3(NF1):c.2034delinsCA (p.Ile679fs) rs1064796331
NM_000267.3(NF1):c.204+1G>A rs886039548
NM_000267.3(NF1):c.204+1G>T rs886039548
NM_000267.3(NF1):c.2041C>T (p.Arg681Ter) rs768638173
NM_000267.3(NF1):c.2135_2136dup (p.Leu713fs) rs1555613810
NM_000267.3(NF1):c.2142T>A (p.Cys714Ter) rs141382637
NM_000267.3(NF1):c.2149del (p.Ala717fs) rs1567847540
NM_000267.3(NF1):c.2163T>A (p.Cys721Ter) rs1555613816
NM_000267.3(NF1):c.2325+1G>A rs1555613933
NM_000267.3(NF1):c.2325+2T>C rs1567847972
NM_000267.3(NF1):c.2325+3A>G rs1057517848
NM_000267.3(NF1):c.2339C>A (p.Thr780Lys) rs199474746
NM_000267.3(NF1):c.233del (p.Asn78fs) rs1438566555
NM_000267.3(NF1):c.2409+1G>T rs1555614022
NM_000267.3(NF1):c.240_241TC[2] (p.Ser82_Gln83insTer) rs771115661
NM_000267.3(NF1):c.2410-1G>C
NM_000267.3(NF1):c.2446C>T (p.Arg816Ter) rs886041347
NM_000267.3(NF1):c.2503C>T (p.Gln835Ter) rs1555614207
NM_000267.3(NF1):c.2510G>A (p.Trp837Ter) rs1348129244
NM_000267.3(NF1):c.2540T>C (p.Leu847Pro) rs199474747
NM_000267.3(NF1):c.2545G>T (p.Gly849Ter) rs1064794275
NM_000267.3(NF1):c.2560C>T (p.Gln854Ter) rs1555614261
NM_000267.3(NF1):c.2665dup (p.Thr889fs) rs886041348
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.2850G>A (p.Gln950=)
NM_000267.3(NF1):c.2890del (p.Thr964fs) rs1555614437
NM_000267.3(NF1):c.2970_2972del (p.Met992del) rs267606606
NM_000267.3(NF1):c.2990+1G>T
NM_000267.3(NF1):c.2991-1G>A rs1060500273
NM_000267.3(NF1):c.3106A>T (p.Lys1036Ter) rs1567849891
NM_000267.3(NF1):c.3113+1G>A rs267606599
NM_000267.3(NF1):c.311T>G (p.Leu104Ter) rs1057521097
NM_000267.3(NF1):c.3261dup (p.Glu1088Ter) rs1555614851
NM_000267.3(NF1):c.3376C>T (p.Gln1126Ter) rs1555614947
NM_000267.3(NF1):c.3449C>G (p.Ser1150Ter) rs1555614972
NM_000267.3(NF1):c.3457_3460del (p.Leu1153fs) rs1321848637
NM_000267.3(NF1):c.3525_3526del (p.Arg1176fs) rs1131691092
NM_000267.3(NF1):c.3563A>C (p.Gln1188Pro) rs758419553
NM_000267.3(NF1):c.3610C>G (p.Arg1204Gly) rs199474732
NM_000267.3(NF1):c.3665del (p.Pro1222fs) rs867391752
NM_000267.3(NF1):c.3677dup (p.Leu1227fs) rs1567851501
NM_000267.3(NF1):c.3703C>T (p.Gln1235Ter) rs1555615109
NM_000267.3(NF1):c.3721C>T (p.Arg1241Ter) rs137854562
NM_000267.3(NF1):c.372_373insTT (p.Arg125fs) rs1555606080
NM_000267.3(NF1):c.3737dup (p.Phe1247fs) rs1555615445
NM_000267.3(NF1):c.3739_3742del (p.Phe1247fs) rs1064794276
NM_000267.3(NF1):c.3763C>T (p.Gln1255Ter) rs1060500308
NM_000267.3(NF1):c.3826C>T (p.Arg1276Ter) rs199474742
NM_000267.3(NF1):c.3827G>A (p.Arg1276Gln) rs137854556
NM_000267.3(NF1):c.3911T>A (p.Leu1304Ter) rs761512189
NM_000267.3(NF1):c.3916C>T (p.Arg1306Ter) rs376576925
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.4197_4198del (p.Pro1400fs) rs1555618536
NM_000267.3(NF1):c.422_437del (p.Val141fs) rs1555606098
NM_000267.3(NF1):c.4267A>G (p.Lys1423Glu) rs137854550
NM_000267.3(NF1):c.4270-2A>G rs1555618634
NM_000267.3(NF1):c.4270-2del rs886041630
NM_000267.3(NF1):c.4317dup (p.Met1440fs) rs886041435
NM_000267.3(NF1):c.4367+2T>G rs1555618693
NM_000267.3(NF1):c.4373dup (p.Leu1459fs) rs1555618803
NM_000267.3(NF1):c.4514+1G>A rs1279529138
NM_000267.3(NF1):c.4534A>T (p.Arg1512Ter) rs1064796633
NM_000267.3(NF1):c.4537C>T (p.Arg1513Ter) rs760703505
NM_000267.3(NF1):c.4606dup (p.Thr1536fs) rs1555619033
NM_000267.3(NF1):c.4621del (p.Asn1542fs) rs1555619041
NM_000267.3(NF1):c.4735A>T (p.Lys1579Ter) rs1567865056
NM_000267.3(NF1):c.4761T>A (p.Tyr1587Ter) rs1567865089
NM_000267.3(NF1):c.4773-1G>A rs1057518326
NM_000267.3(NF1):c.4773-2A>C rs1555533265
NM_000267.3(NF1):c.479+1G>T rs1555606137
NM_000267.3(NF1):c.480-2A>G rs1567820688
NM_000267.3(NF1):c.4912_4913CT[1] (p.Lys1640fs) rs1085307459
NM_000267.3(NF1):c.495_498TGTT[1] (p.Cys167fs) rs786201874
NM_000267.3(NF1):c.503C>G (p.Ser168Ter) rs1131691994
NM_000267.3(NF1):c.5054_5055insA (p.Val1686fs) rs1567611534
NM_000267.3(NF1):c.5206delG rs1555533549
NM_000267.3(NF1):c.5234C>G (p.Ser1745Ter) rs1555533555
NM_000267.3(NF1):c.5242C>T (p.Arg1748Ter) rs876657714
NM_000267.3(NF1):c.5257_5261dup (p.Ser1755fs) rs1555533562
NM_000267.3(NF1):c.5368_5386del (p.Thr1790fs) rs1567612488
NM_000267.3(NF1):c.5425C>T (p.Arg1809Cys) rs797045139
NM_000267.3(NF1):c.5466dup (p.Lys1823fs) rs1555533628
NM_000267.3(NF1):c.5478_5484del (p.Lys1827fs) rs1064796631
NM_000267.3(NF1):c.5546G>A (p.Arg1849Gln) rs786202112
NM_000267.3(NF1):c.5594T>A (p.Leu1865Ter) rs1555533853
NM_000267.3(NF1):c.569T>G (p.Leu190Ter) rs1555607112
NM_000267.3(NF1):c.574C>T (p.Arg192Ter) rs397514641
NM_000267.3(NF1):c.5759T>A (p.Leu1920Ter) rs1555534375
NM_000267.3(NF1):c.5779T>G (p.Tyr1927Asp) rs1057520575
NM_000267.3(NF1):c.5792G>A (p.Trp1931Ter) rs1567615766
NM_000267.3(NF1):c.5793G>A (p.Trp1931Ter) rs1555534393
NM_000267.3(NF1):c.5817C>A (p.Cys1939Ter) rs1462287670
NM_000267.3(NF1):c.5839C>T (p.Arg1947Ter) rs137854552
NM_000267.3(NF1):c.587-2A>T rs1057518360
NM_000267.3(NF1):c.5875del (p.Thr1959fs) rs1567615852
NM_000267.3(NF1):c.5896C>T (p.Gln1966Ter) rs876659070
NM_000267.3(NF1):c.5904C>G (p.Tyr1968Ter) rs1567615902
NM_000267.3(NF1):c.5943+1G>A rs1555534433
NM_000267.3(NF1):c.5943_5943+1delinsAA rs1064796077
NM_000267.3(NF1):c.5999del (p.Gly2000fs) rs1057518475
NM_000267.3(NF1):c.6025dup (p.Val2009fs) rs1555534609
NM_000267.3(NF1):c.6084+1G>A rs1060500296
NM_000267.3(NF1):c.6162G>A (p.Trp2054Ter) rs1555534677
NM_000267.3(NF1):c.6367G>T (p.Glu2123Ter) rs1567617371
NM_000267.3(NF1):c.6579+1G>A rs1060500345
NM_000267.3(NF1):c.6611G>A (p.Trp2204Ter) rs1193716348
NM_000267.3(NF1):c.663del (p.Phe220_Trp221insTer) rs1555608736
NM_000267.3(NF1):c.6650_6652del (p.Phe2217_Gln2218delinsTer) rs1555534948
NM_000267.3(NF1):c.6688_6691del (p.Val2230fs) rs1567617877
NM_000267.3(NF1):c.669G>A (p.Trp223Ter) rs1057517967
NM_000267.3(NF1):c.6709C>T (p.Arg2237Ter) rs876658541
NM_000267.3(NF1):c.6733C>T (p.Gln2245Ter) rs1555534955
NM_000267.3(NF1):c.6756+2T>A
NM_000267.3(NF1):c.6789_6792del (p.Tyr2264fs) rs1555535032
NM_000267.3(NF1):c.6791dup (p.Tyr2264Ter) rs876657715
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.6849_6853del (p.Leu2283_Leu2284insTer) rs878853025
NM_000267.3(NF1):c.6907C>T (p.Gln2303Ter) rs1131691073
NM_000267.3(NF1):c.6971T>G (p.Leu2324Ter) rs1555535195
NM_000267.3(NF1):c.7193_7194del (p.Leu2398fs) rs1555536027
NM_000267.3(NF1):c.7204_7205CA[1] (p.His2402fs) rs878853913
NM_000267.3(NF1):c.7211del (p.Asn2404fs) rs1555536030
NM_000267.3(NF1):c.724dup (p.Met242fs) rs1555608763
NM_000267.3(NF1):c.7267_7268insAA (p.Thr2423fs) rs1064794278
NM_000267.3(NF1):c.7267dup (p.Thr2423fs) rs1064794278
NM_000267.3(NF1):c.7285C>T (p.Arg2429Ter) rs786202457
NM_000267.3(NF1):c.730+1G>A rs1060500274
NM_000267.3(NF1):c.731-1G>A rs1555608928
NM_000267.3(NF1):c.7486C>T (p.Arg2496Ter) rs866445127
NM_000267.3(NF1):c.7552+1G>T rs1555536380
NM_000267.3(NF1):c.7699C>T (p.Gln2567Ter) rs1555536687
NM_000267.3(NF1):c.7709del (p.Pro2570fs) rs1064795136
NM_000267.3(NF1):c.7715del (p.Leu2572fs) rs1567626919
NM_000267.3(NF1):c.7806+1G>A rs1329683225
NM_000267.3(NF1):c.7846C>T (p.Arg2616Ter) rs786201367
NM_000267.3(NF1):c.7901del (p.Pro2634fs) rs1567627268
NM_000267.3(NF1):c.801G>A (p.Trp267Ter) rs1064794273
NM_000267.3(NF1):c.844C>T (p.Gln282Ter)
NM_000267.3(NF1):c.910C>T (p.Arg304Ter) rs786203950
NM_000267.3(NF1):c.950_953dup (p.Glu318fs) rs1555610879
NM_000267.3(NF1):c.989C>T (p.Ala330Val) rs1555610898

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