ClinVar Miner

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

Minimum submission review status: Collection method:
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Gene type:
ClinVar version:
Total variants: 109
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HGVS dbSNP gnomAD frequency
NM_001042492.3(NF1):c.6674G>A (p.Trp2225Ter) rs1193716348 0.00001
NM_001042492.3(NF1):c.7700C>T (p.Pro2567Leu) rs754511534 0.00001
NM_001042492.3(NF1):c.1063-1G>C rs1555610955
NM_001042492.3(NF1):c.1073_1074insA (p.Phe358fs) rs1555610971
NM_001042492.3(NF1):c.1077del (p.Pro360fs) rs1555610972
NM_001042492.3(NF1):c.1104_1107del (p.Gln369fs) rs1555610984
NM_001042492.3(NF1):c.1245del (p.Arg416fs) rs1555611098
NM_001042492.3(NF1):c.1393-1G>C rs1131691131
NM_001042492.3(NF1):c.1393-2A>G rs1555612266
NM_001042492.3(NF1):c.1413_1414delinsT (p.Lys471fs) rs1555612273
NM_001042492.3(NF1):c.1490del (p.Val497fs) rs1555612286
NM_001042492.3(NF1):c.1496T>G (p.Leu499Arg) rs1555612288
NM_001042492.3(NF1):c.1527+2T>C rs1064796700
NM_001042492.3(NF1):c.1598T>G (p.Val533Gly) rs1555612857
NM_001042492.3(NF1):c.1607C>G (p.Ser536Ter) rs1555612859
NM_001042492.3(NF1):c.1641+2T>C rs1555612867
NM_001042492.3(NF1):c.1660C>T (p.Gln554Ter) rs953440640
NM_001042492.3(NF1):c.1845+2T>C rs1555613430
NM_001042492.3(NF1):c.1846C>T (p.Gln616Ter) rs1555613543
NM_001042492.3(NF1):c.188del (p.Lys63fs) rs1555604939
NM_001042492.3(NF1):c.2035dup (p.Ile679fs) rs1555613773
NM_001042492.3(NF1):c.2163T>A (p.Cys721Ter) rs1555613816
NM_001042492.3(NF1):c.2187dup (p.Asn730Ter) rs1555613821
NM_001042492.3(NF1):c.2252-1G>T rs587781577
NM_001042492.3(NF1):c.2252-2A>G rs1131691105
NM_001042492.3(NF1):c.2269A>T (p.Lys757Ter) rs1270674587
NM_001042492.3(NF1):c.2288T>G (p.Leu763Arg) rs199474762
NM_001042492.3(NF1):c.2309_2315dup (p.Asn773fs) rs1555613926
NM_001042492.3(NF1):c.2325G>A (p.Glu775=) rs1555613932
NM_001042492.3(NF1):c.2552del (p.Cys851fs) rs1555614260
NM_001042492.3(NF1):c.2560C>T (p.Gln854Ter) rs1555614261
NM_001042492.3(NF1):c.2665dup (p.Thr889fs) rs886041348
NM_001042492.3(NF1):c.2739dup (p.Arg914fs) rs1555614319
NM_001042492.3(NF1):c.2842dup (p.Gln948fs) rs1555614354
NM_001042492.3(NF1):c.2846dup (p.Gln950fs) rs1555614358
NM_001042492.3(NF1):c.2873_2877delinsTGG (p.Thr958fs) rs1555614426
NM_001042492.3(NF1):c.2876_2877insG (p.Phe960fs) rs1555614429
NM_001042492.3(NF1):c.2990+5G>A rs1555614464
NM_001042492.3(NF1):c.2991-2A>C rs1555614495
NM_001042492.3(NF1):c.3113+2T>G rs876658997
NM_001042492.3(NF1):c.3114-1G>A rs1555614611
NM_001042492.3(NF1):c.3124del (p.Met1041_Val1042insTer) rs1555614624
NM_001042492.3(NF1):c.3251C>T (p.Pro1084Leu) rs1164081667
NM_001042492.3(NF1):c.3288_3294dup (p.Lys1099fs) rs1555614862
NM_001042492.3(NF1):c.3313A>T (p.Lys1105Ter) rs1555614867
NM_001042492.3(NF1):c.3318C>A (p.Tyr1106Ter) rs876659289
NM_001042492.3(NF1):c.3324_3325del (p.Leu1109fs) rs1555614918
NM_001042492.3(NF1):c.3357del (p.Val1120fs) rs1555614934
NM_001042492.3(NF1):c.3427C>T (p.His1143Tyr) rs1555614963
NM_001042492.3(NF1):c.3445A>G (p.Met1149Val) rs1187097568
NM_001042492.3(NF1):c.3586C>G (p.Leu1196Val) rs1555615039
NM_001042492.3(NF1):c.3708+3A>T rs1555615114
NM_001042492.3(NF1):c.3787_3788insT (p.Lys1263fs) rs1555615467
NM_001042492.3(NF1):c.3791_3801del (p.Glu1264fs) rs1555615469
NM_001042492.3(NF1):c.3864T>A (p.Cys1288Ter) rs1555615495
NM_001042492.3(NF1):c.4076_4077insA (p.Gln1360fs) rs1555617364
NM_001042492.3(NF1):c.4183C>T (p.Gln1395Ter) rs1555618494
NM_001042492.3(NF1):c.4231C>G (p.Leu1411Val) rs199474789
NM_001042492.3(NF1):c.4330A>C (p.Lys1444Gln) rs137854550
NM_001042492.3(NF1):c.4332+2T>C rs786204207
NM_001042492.3(NF1):c.4332G>A (p.Lys1444=) rs199474750
NM_001042492.3(NF1):c.4339C>T (p.Gln1447Ter) rs1135402857
NM_001042492.3(NF1):c.4430+1G>C rs773151680
NM_001042492.3(NF1):c.4658del (p.Pro1553fs) rs1555619029
NM_001042492.3(NF1):c.4669dup (p.Thr1557fs) rs1555619033
NM_001042492.3(NF1):c.4744_4745del (p.Glu1582fs) rs1555619395
NM_001042492.3(NF1):c.4821T>A (p.Tyr1607Ter) rs1555619416
NM_001042492.3(NF1):c.4836-1G>A rs1057518326
NM_001042492.3(NF1):c.4998del (p.Pro1667fs) rs1135402867
NM_001042492.3(NF1):c.5065dup (p.Tyr1689fs) rs1555533359
NM_001042492.3(NF1):c.5072_5073delinsCCC (p.Lys1691fs) rs1555533363
NM_001042492.3(NF1):c.5268+2T>G rs1555533416
NM_001042492.3(NF1):c.5285T>A (p.Val1762Asp) rs1555533550
NM_001042492.3(NF1):c.5357C>A (p.Ser1786Ter) rs1555533569
NM_001042492.3(NF1):c.5560_5562delinsT (p.Leu1854fs) rs1555533641
NM_001042492.3(NF1):c.5610-2A>T rs1135402876
NM_001042492.3(NF1):c.5624A>G (p.Asn1875Ser) rs1555533843
NM_001042492.3(NF1):c.5663dup (p.Glu1889fs) rs1555533856
NM_001042492.3(NF1):c.5786_5787del (p.Glu1929fs) rs1555533882
NM_001042492.3(NF1):c.5812+1G>T rs876658854
NM_001042492.3(NF1):c.5836T>A (p.Leu1946Met) rs1422333640
NM_001042492.3(NF1):c.5991G>A (p.Trp1997Ter) rs876660696
NM_001042492.3(NF1):c.6007-1G>A rs1555534596
NM_001042492.3(NF1):c.6147+2T>C rs1555534621
NM_001042492.3(NF1):c.6227_6228dup (p.Asp2077fs) rs1555534680
NM_001042492.3(NF1):c.6304dup (p.Tyr2102fs) rs1555534712
NM_001042492.3(NF1):c.6462dup (p.Glu2155fs) rs1135402888
NM_001042492.3(NF1):c.655-2A>C rs1555608734
NM_001042492.3(NF1):c.6645del (p.Cys2216fs) rs1555534913
NM_001042492.3(NF1):c.6669C>A (p.Cys2223Ter) rs1555534918
NM_001042492.3(NF1):c.6671del (p.Lys2224fs) rs1555534919
NM_001042492.3(NF1):c.6705-17G>A rs1064795966
NM_001042492.3(NF1):c.6780_6791delinsATGAGAC (p.His2261_Ile2264delinsTer) rs1555534952
NM_001042492.3(NF1):c.6833dup (p.Cys2278fs) rs1555535027
NM_001042492.3(NF1):c.6855dup (p.Asn2286fs) rs1555535041
NM_001042492.3(NF1):c.6921+2T>A rs1555535053
NM_001042492.3(NF1):c.6921G>C (p.Lys2307Asn) rs1057523533
NM_001042492.3(NF1):c.6952_6955del (p.Val2318fs) rs1555535163
NM_001042492.3(NF1):c.6979_6980insTA (p.Glu2327fs) rs1555535171
NM_001042492.3(NF1):c.7169_7178delinsCAGC (p.Leu2390_His2393delinsSerAla) rs1555535448
NM_001042492.3(NF1):c.730+1G>T rs1060500274
NM_001042492.3(NF1):c.7581del (p.Gln2528fs) rs878853917
NM_001042492.3(NF1):c.7753del (p.Ser2585fs) rs1555536685
NM_001042492.3(NF1):c.8159del (p.Lys2720fs) rs1555537029
NM_001042492.3(NF1):c.8160+1G>A rs1555537032
NM_001042492.3(NF1):c.817del (p.Leu273fs) rs1555608972
NM_001042492.3(NF1):c.889-1G>A rs587781517
NM_001042492.3(NF1):c.959C>A (p.Ala320Asp) rs1555610884
NM_001042492.3(NF1):c.988del (p.Ala330fs) rs1555610896

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