ClinVar Miner

List of variants in gene NF1 reported by Center for Human Genetics, Inc

Minimum submission review status: Collection method:
Minimum conflict level:
Gene type:
ClinVar version:
Total variants: 261
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HGVS dbSNP
NM_000267.3(NF1):c.1017_1018CT[1] (p.Ser340fs) rs1555610903
NM_000267.3(NF1):c.1063-1G>C rs1555610955
NM_000267.3(NF1):c.1070T>C (p.Leu357Pro) rs137854563
NM_000267.3(NF1):c.1073_1074insA (p.Phe358fs) rs1555610971
NM_000267.3(NF1):c.1077del (p.Pro360fs) rs1555610972
NM_000267.3(NF1):c.1104_1107del (p.Gln369fs) rs1555610984
NM_000267.3(NF1):c.1237T>C (p.Ser413Pro) rs1555611093
NM_000267.3(NF1):c.1244A>G (p.His415Arg) rs1555611097
NM_000267.3(NF1):c.1245del (p.Arg416fs) rs1555611098
NM_000267.3(NF1):c.1246C>T (p.Arg416Ter) rs764079291
NM_000267.3(NF1):c.1260+6T>C rs1555611111
NM_000267.3(NF1):c.1260+6T>G rs1555611111
NM_000267.3(NF1):c.1318C>T (p.Arg440Ter) rs778405030
NM_000267.3(NF1):c.1328T>C (p.Phe443Ser) rs1555611581
NM_000267.3(NF1):c.1392+1G>A rs267604791
NM_000267.3(NF1):c.1393-1G>C rs1131691131
NM_000267.3(NF1):c.1393-2A>G rs1555612266
NM_000267.3(NF1):c.1413_1414delinsT (p.Lys471fs) rs1555612273
NM_000267.3(NF1):c.1466A>G (p.Tyr489Cys) rs137854557
NM_000267.3(NF1):c.1490del (p.Val497fs) rs1555612286
NM_000267.3(NF1):c.1496T>G (p.Leu499Arg) rs1555612288
NM_000267.3(NF1):c.1527+2T>C rs1064796700
NM_000267.3(NF1):c.1527+5G>A rs1060500352
NM_000267.3(NF1):c.1540C>T (p.Gln514Ter) rs1316926587
NM_000267.3(NF1):c.1541A>C (p.Gln514Pro) rs775369084
NM_000267.3(NF1):c.1541_1542del (p.Gln514fs) rs267606600
NM_000267.3(NF1):c.1541del (p.Gln514fs) rs1555612815
NM_000267.3(NF1):c.1598T>G (p.Val533Gly) rs1555612857
NM_000267.3(NF1):c.1599C>G (p.Val533=) rs369458366
NM_000267.3(NF1):c.1607C>A (p.Ser536Ter) rs1555612859
NM_000267.3(NF1):c.1607C>G (p.Ser536Ter) rs1555612859
NM_000267.3(NF1):c.1641+2T>C rs1555612867
NM_000267.3(NF1):c.1642-1G>A rs1555613185
NM_000267.3(NF1):c.1642-8A>G rs267606602
NM_000267.3(NF1):c.1655T>G (p.Leu552Arg) rs1555613193
NM_000267.3(NF1):c.1658A>G (p.His553Arg) rs1064794274
NM_000267.3(NF1):c.1660C>T (p.Gln554Ter) rs953440640
NM_000267.3(NF1):c.169G>A (p.Gly57Ser) rs779727341
NM_000267.3(NF1):c.1721G>A (p.Ser574Asn) rs1555613206
NM_000267.3(NF1):c.1748A>G (p.Lys583Arg) rs199474760
NM_000267.3(NF1):c.1756_1759del (p.Thr586fs) rs786202782
NM_000267.3(NF1):c.1845+2T>C rs1555613430
NM_000267.3(NF1):c.1846C>T (p.Gln616Ter) rs1555613543
NM_000267.3(NF1):c.1885G>A (p.Gly629Arg) rs199474738
NM_000267.3(NF1):c.188del (p.Lys63fs) rs1555604939
NM_000267.3(NF1):c.1994C>T (p.Ser665Phe) rs145891889
NM_000267.3(NF1):c.2002-1G>A rs1555613743
NM_000267.3(NF1):c.200A>G (p.Asn67Ser) rs375038808
NM_000267.3(NF1):c.2033dup (p.Ile679fs) rs587781807
NM_000267.3(NF1):c.2035dup (p.Ile679fs) rs1555613773
NM_000267.3(NF1):c.204+1G>A rs886039548
NM_000267.3(NF1):c.2041C>T (p.Arg681Ter) rs768638173
NM_000267.3(NF1):c.205-1G>C rs1555605362
NM_000267.3(NF1):c.2163T>A (p.Cys721Ter) rs1555613816
NM_000267.3(NF1):c.2187dup (p.Asn730Ter) rs1555613821
NM_000267.3(NF1):c.2252-1G>T rs587781577
NM_000267.3(NF1):c.2252-2A>C rs1131691105
NM_000267.3(NF1):c.2252-2A>G rs1131691105
NM_000267.3(NF1):c.2269A>T (p.Lys757Ter) rs1270674587
NM_000267.3(NF1):c.2288T>G (p.Leu763Arg) rs199474762
NM_000267.3(NF1):c.2294G>A (p.Arg765His) rs199474777
NM_000267.3(NF1):c.2309_2315dup (p.Asn773fs) rs1555613926
NM_000267.3(NF1):c.2325+1G>A rs1555613933
NM_000267.3(NF1):c.2325G>A (p.Glu775=) rs1555613932
NM_000267.3(NF1):c.2339C>G (p.Thr780Arg) rs199474746
NM_000267.3(NF1):c.2356C>T (p.Gln786Ter) rs1555613999
NM_000267.3(NF1):c.2409+1G>C rs1555614022
NM_000267.3(NF1):c.240_241TC[3] (p.Gln83fs) rs771115661
NM_000267.3(NF1):c.2446C>T (p.Arg816Ter) rs886041347
NM_000267.3(NF1):c.245C>T (p.Ser82Phe) rs199474729
NM_000267.3(NF1):c.2533T>C (p.Cys845Arg) rs1060500254
NM_000267.3(NF1):c.2540T>C (p.Leu847Pro) rs199474747
NM_000267.3(NF1):c.2552del (p.Cys851fs) rs1555614260
NM_000267.3(NF1):c.2560C>T (p.Gln854Ter) rs1555614261
NM_000267.3(NF1):c.2665dup (p.Thr889fs) rs886041348
NM_000267.3(NF1):c.266C>A (p.Thr89Lys) rs1555605392
NM_000267.3(NF1):c.269T>G (p.Leu90Arg) rs1555605393
NM_000267.3(NF1):c.2739dup (p.Arg914fs) rs1555614319
NM_000267.3(NF1):c.2786T>C (p.Leu929Pro) rs1555614338
NM_000267.3(NF1):c.278G>A (p.Cys93Tyr) rs199474728
NM_000267.3(NF1):c.2798T>C (p.Leu933Pro) rs1555614342
NM_000267.3(NF1):c.2842dup (p.Gln948fs) rs1555614354
NM_000267.3(NF1):c.2846dup (p.Gln950fs) rs1555614358
NM_000267.3(NF1):c.2850+1G>A rs1131691122
NM_000267.3(NF1):c.2873_2877delinsTGG (p.Thr958fs) rs1555614426
NM_000267.3(NF1):c.2876_2877insG (p.Phe960fs) rs1555614429
NM_000267.3(NF1):c.2887C>T (p.Gln963Ter) rs876660444
NM_000267.3(NF1):c.2970_2972del (p.Met992del) rs267606606
NM_000267.3(NF1):c.2990+5G>A rs1555614464
NM_000267.3(NF1):c.2991-2A>C rs1555614495
NM_000267.3(NF1):c.3046T>C (p.Cys1016Arg) rs878853880
NM_000267.3(NF1):c.3113+2T>G rs876658997
NM_000267.3(NF1):c.3114-1G>A rs1555614611
NM_000267.3(NF1):c.3124del (p.Met1041_Val1042insTer) rs1555614624
NM_000267.3(NF1):c.3197+1G>A rs1555614653
NM_000267.3(NF1):c.3198-2A>G rs1131691089
NM_000267.3(NF1):c.3198-4T>C rs587782218
NM_000267.3(NF1):c.3251C>T (p.Pro1084Leu) rs1164081667
NM_000267.3(NF1):c.3288_3294dup (p.Lys1099fs) rs1555614862
NM_000267.3(NF1):c.3313A>T (p.Lys1105Ter) rs1555614867
NM_000267.3(NF1):c.3318C>A (p.Tyr1106Ter) rs876659289
NM_000267.3(NF1):c.3324_3325del (p.Leu1109fs) rs1555614918
NM_000267.3(NF1):c.3357del (p.Val1120fs) rs1555614934
NM_000267.3(NF1):c.3427C>T (p.His1143Tyr) rs1555614963
NM_000267.3(NF1):c.3445A>G (p.Met1149Val) rs1187097568
NM_000267.3(NF1):c.3447G>A (p.Met1149Ile) rs1064794277
NM_000267.3(NF1):c.3457_3460del (p.Leu1153fs) rs1321848637
NM_000267.3(NF1):c.3496+19T>C rs9890283
NM_000267.3(NF1):c.3498C>T (p.Gly1166=) rs2066733
NM_000267.3(NF1):c.3525_3526del (p.Arg1176fs) rs1131691092
NM_000267.3(NF1):c.3586C>G (p.Leu1196Val) rs1555615039
NM_000267.3(NF1):c.3596C>G (p.Thr1199Arg) rs1555615047
NM_000267.3(NF1):c.3644T>C (p.Met1215Thr) rs1555615071
NM_000267.3(NF1):c.3656_3658del (p.Gly1219del) rs1555615077
NM_000267.3(NF1):c.3686del (p.Asn1229fs) rs1555615103
NM_000267.3(NF1):c.3708+3A>T rs1555615114
NM_000267.3(NF1):c.3767T>G (p.Leu1256Arg) rs1555615457
NM_000267.3(NF1):c.3787_3788insT (p.Lys1263fs) rs1555615467
NM_000267.3(NF1):c.3791_3801del (p.Glu1264fs) rs1555615469
NM_000267.3(NF1):c.3818_3819CT[2] (p.Phe1275fs) rs1555615472
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.3827G>C (p.Arg1276Pro) rs137854556
NM_000267.3(NF1):c.3864T>A (p.Cys1288Ter) rs1555615495
NM_000267.3(NF1):c.3867C>T (p.Phe1289=) rs138186428
NM_000267.3(NF1):c.3911del (p.Leu1304fs) rs1555615549
NM_000267.3(NF1):c.3916C>T (p.Arg1306Ter) rs376576925
NM_000267.3(NF1):c.4076_4077insA (p.Gln1360fs) rs1555617364
NM_000267.3(NF1):c.4076del (p.Pro1359fs) rs1135402852
NM_000267.3(NF1):c.4084C>T (p.Arg1362Ter) rs137854560
NM_000267.3(NF1):c.4120C>T (p.Gln1374Ter) rs1555618494
NM_000267.3(NF1):c.4168C>G (p.Leu1390Val) rs199474789
NM_000267.3(NF1):c.4172G>C (p.Arg1391Thr) rs1555618516
NM_000267.3(NF1):c.4243G>T (p.Glu1415Ter) rs876660428
NM_000267.3(NF1):c.4267A>C (p.Lys1423Gln) rs137854550
NM_000267.3(NF1):c.4269+2T>C rs786204207
NM_000267.3(NF1):c.4269G>A (p.Lys1423=) rs199474750
NM_000267.3(NF1):c.4270-2A>G rs1555618634
NM_000267.3(NF1):c.4276C>T (p.Gln1426Ter) rs1135402857
NM_000267.3(NF1):c.4277A>C (p.Gln1426Pro) rs786204157
NM_000267.3(NF1):c.4289A>C (p.Asn1430Thr) rs199474754
NM_000267.3(NF1):c.4289A>T (p.Asn1430Ile) rs199474754
NM_000267.3(NF1):c.4306_4308del (p.Lys1436del) rs1555618653
NM_000267.3(NF1):c.4358C>T (p.Ala1453Val) rs587781553
NM_000267.3(NF1):c.4367+1G>C rs773151680
NM_000267.3(NF1):c.4514+11C>G rs190614908
NM_000267.3(NF1):c.4523A>G (p.Lys1508Arg) rs1555619001
NM_000267.3(NF1):c.4537C>T (p.Arg1513Ter) rs760703505
NM_000267.3(NF1):c.4572C>G (p.Tyr1524Ter) rs754023358
NM_000267.3(NF1):c.4595del (p.Pro1532fs) rs1555619029
NM_000267.3(NF1):c.4606dup (p.Thr1536fs) rs1555619033
NM_000267.3(NF1):c.4614G>A (p.Trp1538Ter) rs137854555
NM_000267.3(NF1):c.4681_4682del (p.Glu1561fs) rs1555619395
NM_000267.3(NF1):c.4720del (p.Gln1574fs) rs1555619404
NM_000267.3(NF1):c.4758T>A (p.Tyr1586Ter) rs1555619416
NM_000267.3(NF1):c.4772+1G>A rs1085307819
NM_000267.3(NF1):c.4773-1G>A rs1057518326
NM_000267.3(NF1):c.484C>T (p.Gln162Ter) rs1555607073
NM_000267.3(NF1):c.4871T>G (p.Leu1624Arg) rs1555533305
NM_000267.3(NF1):c.4912_4913CT[1] (p.Lys1640fs) rs1085307459
NM_000267.3(NF1):c.4935del (p.Pro1646fs) rs1135402867
NM_000267.3(NF1):c.495_498TGTT[1] (p.Cys167fs) rs786201874
NM_000267.3(NF1):c.496_497del (p.Val166fs) rs1135402788
NM_000267.3(NF1):c.4972A>G (p.Ile1658Val) rs147327414
NM_000267.3(NF1):c.5002dup (p.Tyr1668fs) rs1555533359
NM_000267.3(NF1):c.5009_5010delinsCCC (p.Lys1670fs) rs1555533363
NM_000267.3(NF1):c.5205+2T>G rs1555533416
NM_000267.3(NF1):c.5206-2A>G rs1555533548
NM_000267.3(NF1):c.5210G>C (p.Gly1737Ala) rs1358882546
NM_000267.3(NF1):c.5222T>A (p.Val1741Asp) rs1555533550
NM_000267.3(NF1):c.5230A>G (p.Thr1744Ala) rs747584987
NM_000267.3(NF1):c.5242C>T (p.Arg1748Ter) rs876657714
NM_000267.3(NF1):c.528T>A (p.Asp176Glu) rs112306990
NM_000267.3(NF1):c.5294C>A (p.Ser1765Ter) rs1555533569
NM_000267.3(NF1):c.5425C>T (p.Arg1809Cys) rs797045139
NM_000267.3(NF1):c.5429G>A (p.Trp1810Ter) rs1135402872
NM_000267.3(NF1):c.5446G>A (p.Asp1816Asn) rs771597781
NM_000267.3(NF1):c.5485_5486del (p.Val1829fs) rs1555533636
NM_000267.3(NF1):c.5497_5499delinsT (p.Leu1833fs) rs1555533641
NM_000267.3(NF1):c.5546G>A (p.Arg1849Gln) rs786202112
NM_000267.3(NF1):c.5547-2A>T rs1135402876
NM_000267.3(NF1):c.5561A>G (p.Asn1854Ser) rs1555533843
NM_000267.3(NF1):c.5600dup (p.Glu1868fs) rs1555533856
NM_000267.3(NF1):c.5613A>C (p.Leu1871Phe) rs876658130
NM_000267.3(NF1):c.5613dup (p.Leu1872fs) rs1475358670
NM_000267.3(NF1):c.5705C>G (p.Thr1902Arg) rs786203824
NM_000267.3(NF1):c.5721_5722AG[1] (p.Glu1908fs) rs1555533882
NM_000267.3(NF1):c.5749+1G>T rs876658854
NM_000267.3(NF1):c.5749+2T>C rs1555533887
NM_000267.3(NF1):c.574C>T (p.Arg192Ter) rs397514641
NM_000267.3(NF1):c.5773T>A (p.Leu1925Met) rs1422333640
NM_000267.3(NF1):c.586+1G>A rs1555607126
NM_000267.3(NF1):c.5928G>A (p.Trp1976Ter) rs876660696
NM_000267.3(NF1):c.5944-1G>A rs1555534596
NM_000267.3(NF1):c.5944-2A>G rs1555534595
NM_000267.3(NF1):c.5944-5A>G rs267606604
NM_000267.3(NF1):c.60+2del rs1131691101
NM_000267.3(NF1):c.6084+1G>A rs1060500296
NM_000267.3(NF1):c.6084+2T>C rs1555534621
NM_000267.3(NF1):c.6164_6165dup (p.Asp2056fs) rs1555534680
NM_000267.3(NF1):c.6241dup (p.Tyr2081fs) rs1555534712
NM_000267.3(NF1):c.6399dup (p.Glu2134fs) rs1135402888
NM_000267.3(NF1):c.654+4del rs1555608683
NM_000267.3(NF1):c.655-2A>C rs1555608734
NM_000267.3(NF1):c.6579+18A>G rs1555534893
NM_000267.3(NF1):c.6579+1G>T rs1060500345
NM_000267.3(NF1):c.6582del (p.Cys2195fs) rs1555534913
NM_000267.3(NF1):c.6606C>A (p.Cys2202Ter) rs1555534918
NM_000267.3(NF1):c.6608del (p.Lys2203fs) rs1555534919
NM_000267.3(NF1):c.6611G>A (p.Trp2204Ter) rs1193716348
NM_000267.3(NF1):c.6641+1G>T rs1060500376
NM_000267.3(NF1):c.6641+2T>G rs1555534928
NM_000267.3(NF1):c.6642-17G>A rs1064795966
NM_000267.3(NF1):c.667T>C (p.Trp223Arg) rs1555608740
NM_000267.3(NF1):c.6709C>T (p.Arg2237Ter) rs876658541
NM_000267.3(NF1):c.6717_6728delinsATGAGAC (p.His2240_Ile2243delinsTer) rs1555534952
NM_000267.3(NF1):c.6770dup (p.Cys2257fs) rs1555535027
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.6792dup (p.Asn2265fs) rs1555535041
NM_000267.3(NF1):c.6858+1G>T rs1060500355
NM_000267.3(NF1):c.6858+2T>A rs1555535053
NM_000267.3(NF1):c.6858G>C (p.Lys2286Asn) rs1057523533
NM_000267.3(NF1):c.6859-16A>G rs202158964
NM_000267.3(NF1):c.6889_6892del (p.Val2297fs) rs1555535163
NM_000267.3(NF1):c.6905T>C (p.Leu2302Pro) rs1131691267
NM_000267.3(NF1):c.6916_6917insTA (p.Glu2306fs) rs1555535171
NM_000267.3(NF1):c.6943G>C (p.Ala2315Pro) rs587781428
NM_000267.3(NF1):c.6947T>G (p.Leu2316Arg) rs1555535179
NM_000267.3(NF1):c.7090_7095AACTTT[1] (p.2364_2365NF[1]) rs864622639
NM_000267.3(NF1):c.7094T>C (p.Phe2365Ser) rs1555535439
NM_000267.3(NF1):c.7106_7115delinsCAGC (p.Leu2369_His2372delinsSerAla) rs1555535448
NM_000267.3(NF1):c.7235C>T (p.Thr2412Ile) rs755749772
NM_000267.3(NF1):c.7263A>G (p.Leu2421=) rs753224880
NM_000267.3(NF1):c.7267dup (p.Thr2423fs) rs1064794278
NM_000267.3(NF1):c.730+1G>T rs1060500274
NM_000267.3(NF1):c.7486C>T (p.Arg2496Ter) rs866445127
NM_000267.3(NF1):c.7518del (p.Gln2507fs) rs878853917
NM_000267.3(NF1):c.7556C>A (p.Thr2519Lys) rs1555536633
NM_000267.3(NF1):c.7637C>T (p.Pro2546Leu) rs754511534
NM_000267.3(NF1):c.7638dup (p.Lys2547fs) rs1060500295
NM_000267.3(NF1):c.7690del (p.Ser2564fs) rs1555536685
NM_000267.3(NF1):c.7697C>G (p.Ser2566Ter) rs1131691090
NM_000267.3(NF1):c.7807-13dup rs369360556
NM_000267.3(NF1):c.7807-20A>G rs574898272
NM_000267.3(NF1):c.7843C>T (p.Gln2615Ter) rs567988442
NM_000267.3(NF1):c.7846C>T (p.Arg2616Ter) rs786201367
NM_000267.3(NF1):c.7907+6T>G rs1555536775
NM_000267.3(NF1):c.8096del (p.Lys2699fs) rs1555537029
NM_000267.3(NF1):c.8097+1G>A rs1555537032
NM_000267.3(NF1):c.8159C>A (p.Thr2720Lys) rs144178015
NM_000267.3(NF1):c.817del (p.Leu273fs) rs1555608972
NM_000267.3(NF1):c.888+1G>A rs1135402799
NM_000267.3(NF1):c.889-1G>A rs587781517
NM_000267.3(NF1):c.910C>T (p.Arg304Ter) rs786203950
NM_000267.3(NF1):c.943C>T (p.Gln315Ter) rs766011053
NM_000267.3(NF1):c.959C>A (p.Ala320Asp) rs1555610884
NM_000267.3(NF1):c.980T>C (p.Leu327Pro) rs201624827
NM_000267.3(NF1):c.981_982GT[1] (p.Leu327_Cys328insTer) rs1555610893
NM_000267.3(NF1):c.988del (p.Ala330fs) rs1555610896
NM_000267.3(NF1):c.989C>T (p.Ala330Val) rs1555610898

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