ClinVar Miner

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

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Gene type:
ClinVar version:
Total variants: 110
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HGVS dbSNP
NM_000267.3(NF1):c.1063-1G>C rs1555610955
NM_000267.3(NF1):c.1073_1074insA (p.Phe358Leufs) rs1555610971
NM_000267.3(NF1):c.1077delT (p.Pro360Glnfs) rs1555610972
NM_000267.3(NF1):c.1104_1107delTCAG (p.Gln369Leufs) rs1555610984
NM_000267.3(NF1):c.1245delT (p.Arg416Glufs) rs1555611098
NM_000267.3(NF1):c.1393-1G>C rs1131691131
NM_000267.3(NF1):c.1413_1414delAGinsT (p.Lys471Asnfs) rs1555612273
NM_000267.3(NF1):c.1490delT (p.Val497Glyfs) 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.1598T>G (p.Val533Gly) rs1555612857
NM_000267.3(NF1):c.1607C>G (p.Ser536Ter) rs1555612859
NM_000267.3(NF1):c.1641+2T>C rs1555612867
NM_000267.3(NF1):c.1660C>T (p.Gln554Ter) rs953440640
NM_000267.3(NF1):c.1845+2T>C rs1555613430
NM_000267.3(NF1):c.1846C>T (p.Gln616Ter) rs1555613543
NM_000267.3(NF1):c.188delA (p.Lys63Argfs) rs1555604939
NM_000267.3(NF1):c.2035dup (p.Ile679Asnfs) rs1555613773
NM_000267.3(NF1):c.2163T>A (p.Cys721Ter) rs1555613816
NM_000267.3(NF1):c.2252-1G>T rs587781577
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.2325G>A (p.Glu775=) rs1555613932
NM_000267.3(NF1):c.2552delG (p.Cys851Serfs) rs1555614260
NM_000267.3(NF1):c.2560C>T (p.Gln854Ter) rs1555614261
NM_000267.3(NF1):c.2665dupA (p.Thr889Asnfs) rs886041348
NM_000267.3(NF1):c.2873_2877delCTCAAinsTGG (p.Thr958Metfs) rs1555614426
NM_000267.3(NF1):c.2876_2877insG (p.Phe960Ilefs) rs1555614429
NM_000267.3(NF1):c.2990+5G>A rs1555614464
NM_000267.3(NF1):c.2991-2A>C rs1555614495
NM_000267.3(NF1):c.3124delG (p.Val1042Terfs) rs1555614624
NM_000267.3(NF1):c.3251C>T (p.Pro1084Leu) rs1164081667
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_3325delAT (p.Leu1109Ilefs) rs1555614918
NM_000267.3(NF1):c.3357delA (p.Val1120Leufs) 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.3586C>G (p.Leu1196Val) rs1555615039
NM_000267.3(NF1):c.3787_3788insT (p.Lys1263Ilefs) rs1555615467
NM_000267.3(NF1):c.3791_3801delAAGTAGAATTG (p.Glu1264Glyfs) rs1555615469
NM_000267.3(NF1):c.3864T>A (p.Cys1288Ter) rs1555615495
NM_000267.3(NF1):c.4076_4077insA (p.Gln1360Serfs) rs1555617364
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.4269+2T>C rs786204207
NM_000267.3(NF1):c.4269G>A (p.Lys1423=) rs199474750
NM_000267.3(NF1):c.4367+1G>C rs773151680
NM_000267.3(NF1):c.4595delC (p.Pro1532Leufs) rs1555619029
NM_000267.3(NF1):c.4606dup (p.Thr1536Asnfs) rs1555619033
NM_000267.3(NF1):c.4681_4682delGA (p.Glu1561Argfs) rs1555619395
NM_000267.3(NF1):c.4758T>A (p.Tyr1586Ter) rs1555619416
NM_000267.3(NF1):c.4773-1G>A rs1057518326
NM_000267.3(NF1):c.4935delT (p.Pro1646Leufs) rs1135402867
NM_000267.3(NF1):c.5002dup (p.Tyr1668Leufs) rs1555533359
NM_000267.3(NF1):c.5009_5010delAGinsCCC (p.Lys1670Thrfs) rs1555533363
NM_000267.3(NF1):c.5222T>A (p.Val1741Asp) rs1555533550
NM_000267.3(NF1):c.5294C>A (p.Ser1765Ter) rs1555533569
NM_000267.3(NF1):c.5497_5499delCTGinsT (p.Leu1833Serfs) rs1555533641
NM_000267.3(NF1):c.5561A>G (p.Asn1854Ser) rs1555533843
NM_000267.3(NF1):c.5600dup (p.Glu1868Argfs) rs1555533856
NM_000267.3(NF1):c.5723_5724delAG (p.Glu1908Valfs) rs1555533882
NM_000267.3(NF1):c.5749+1G>T rs876658854
NM_000267.3(NF1):c.5773T>A (p.Leu1925Met) rs1422333640
NM_000267.3(NF1):c.5944-1G>A rs1555534596
NM_000267.3(NF1):c.6084+2T>C rs1555534621
NM_000267.3(NF1):c.6241dup (p.Tyr2081Leufs) rs1555534712
NM_000267.3(NF1):c.655-2A>C rs1555608734
NM_000267.3(NF1):c.6582delA (p.Cys2195Alafs) rs1555534913
NM_000267.3(NF1):c.6606C>A (p.Cys2202Ter) rs1555534918
NM_000267.3(NF1):c.6608delA (p.Lys2203Serfs) rs1555534919
NM_000267.3(NF1):c.6611G>A (p.Trp2204Ter) rs1193716348
NM_000267.3(NF1):c.6642-17G>A rs1064795966
NM_000267.3(NF1):c.6717_6728delTCATGGGCAGATinsATGAGAC (p.His2240Terfs) rs1555534952
NM_000267.3(NF1):c.6770dup (p.Cys2257Trpfs) rs1555535027
NM_000267.3(NF1):c.6858+2T>A rs1555535053
NM_000267.3(NF1):c.6858G>C (p.Lys2286Asn) rs1057523533
NM_000267.3(NF1):c.6889_6892delGTAG (p.Val2297Leufs) rs1555535163
NM_000267.3(NF1):c.6916_6917insTA (p.Glu2306Valfs) rs1555535171
NM_000267.3(NF1):c.7106_7115delTGGTTGGACAinsCAGC (p.Leu2369_His2372delinsSerAla) rs1555535448
NM_000267.3(NF1):c.730+1G>T rs1060500274
NM_000267.3(NF1):c.7518delG (p.Gln2507Asnfs) rs878853917
NM_000267.3(NF1):c.7690delT (p.Ser2564Profs) rs1555536685
NM_000267.3(NF1):c.8096delA (p.Lys2699Serfs) rs1555537029
NM_000267.3(NF1):c.8097+1G>A rs1555537032
NM_000267.3(NF1):c.817delC (p.Leu273Serfs) rs1555608972
NM_000267.3(NF1):c.959C>A (p.Ala320Asp) rs1555610884
NM_000267.3(NF1):c.988delG (p.Ala330Glnfs) rs1555610896
NM_001042492.2(NF1):c.1393-2A>G rs1555612266
NM_001042492.2(NF1):c.2187dup (p.Asn730Terfs) rs1555613821
NM_001042492.2(NF1):c.2252-2A>G rs1131691105
NM_001042492.2(NF1):c.2309_2315dup (p.Asn773Cysfs) rs1555613926
NM_001042492.2(NF1):c.2739dup (p.Arg914Thrfs) rs1555614319
NM_001042492.2(NF1):c.2842dup (p.Gln948Profs) rs1555614354
NM_001042492.2(NF1):c.2846dup (p.Gln950Thrfs) rs1555614358
NM_001042492.2(NF1):c.3113+2T>G rs876658997
NM_001042492.2(NF1):c.3114-1G>A rs1555614611
NM_001042492.2(NF1):c.3288_3294dup (p.Lys1099Glyfs) rs1555614862
NM_001042492.2(NF1):c.3708+3A>T rs1555615114
NM_001042492.2(NF1):c.4330A>C (p.Lys1444Gln) rs137854550
NM_001042492.2(NF1):c.4339C>T (p.Gln1447Ter) rs1135402857
NM_001042492.2(NF1):c.5268+2T>G rs1555533416
NM_001042492.2(NF1):c.5610-2A>T rs1135402876
NM_001042492.2(NF1):c.5991G>A (p.Trp1997Ter) rs876660696
NM_001042492.2(NF1):c.60+2delT rs1131691101
NM_001042492.2(NF1):c.6227_6228dup (p.Asp2077Metfs) rs1555534680
NM_001042492.2(NF1):c.6462dup (p.Glu2155Argfs) rs1135402888
NM_001042492.2(NF1):c.6855dup (p.Asn2286Glnfs) rs1555535041
NM_001042492.2(NF1):c.7700C>T (p.Pro2567Leu) rs754511534
NM_001042492.2(NF1):c.889-1G>A rs587781517

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